Partnering Early to Provide for Infants At Risk of Cerebral Palsy (PEPI ARC): protocol for a feasibility study of a regional hub for early detection of cerebral palsy in Aotearoa New Zealand.

Introduction: Cerebral palsy (CP) can now be diagnosed in infants with identified CP risk factors as early as three months of age; however, many barriers prevent equitable access to early detection pathways. The "Partnering Early to Provide for Infants At Risk of Cerebral Palsy" feasibility study (PEPI ARC) seeks to trial a new approach to decrease inequitable health service in Aotearoa New Zealand for high-risk infants and their families. PEPI ARC incorporates face-to-face clinics, an in-person and virtual Hub, and the use of telehealth to enable flexible access to CP assessments and support for health professionals in early CP detection. Methods and analysis: A non-randomised feasibility study was conducted from a tertiary Neonatal Intensive Care Unit (NICU) in Wellington and included seven regional referral centres, servicing nearly 30% of the total population in New Zealand (NZ). The families of infants with a high risk of neurodevelopmental impairment and health professionals interacting with the Hub were invited to participate. Mixed methods were used to evaluate the (i) equitable implementation of an early detection pathway, (ii) acceptability, (iii) demand among families and health professionals, (iv) efficacy in relation to reducing the age of receipt of CP diagnosis, and (v) the experiences around communication and information sharing. Ethics and dissemination: The NZ Health and Disability Ethics Committee approved this study (HDEC: 2022 FULL 13434). The findings will be disseminated in peer-reviewed journals, in conference presentations, and via professional networks. Clinical trial registration: Australian New Zealand Clinical Trials Registry: ACTRN12623000600640.

Double Mesiodens in the Mixed Dentition of Non-syndromic North-Indian Patients: A Case Series.

The presence of double mesiodens or mesiodentes, i.e., two supernumerary teeth in the maxillary midline, presents unique challenges in mixed dentition. Common clinical manifestations include delayed eruption, midline diastema, and occlusal disturbances, leading to complications such as root resorption, pathological migration of tooth, crowding, cyst formation, and malocclusion. Mesiodens can be associated with several syndromes, like cleidocranial dysplasia, familial adenomatous polyposis, trichorhinophalangeal syndrome, type I, Rubinstein-Taybi syndrome, and Nance-Horan syndrome, among others. It can also be secondary to trauma, hyperactivity of the dental lamina, and a combination of genetic and environmental factors, but its etiology continues to be idiopathic. Double mesiodens are relatively rare, so this clinical observation aimed to highlight five such cases of double mesiodens in mixed dentition in non-syndromic children and adolescents. Additionally, a literature search reporting cases of double mesiodens in the mixed dentition was done, and the results were tabulated. Clinicians should be able to identify indications of supernumerary teeth, specifically deviations in the eruption pattern. Appropriate investigations and timely intervention are essential to reducing complications that may arise in the developing dentition.

Case Study: Rosai-Dorfman Disease and Its Multifaceted Aspects.

Rosai-Dorfman Disease (RDD) is a rare non-Langerhans histiocytosis, usually self-limited and presenting with massive, painless, bilateral cervical lymphadenopathy, with or without constitutional symptoms. Extranodal disease is frequently present, and may happen in the absence of lymph node involvement, symptomatology and differential diagnosis will depend on the site affected and fatal cases may occur. The authors present two cases of Rosai-Dorfman disease (RDD), diagnosed through immunohistochemistry, with different progressions, one with complete remission and one culminating in death, highlighting the variety of presentations and the diagnostic difficulty. RDD is a rare condition with clinical presentations similar to several diseases, and should be considered in the differential diagnosis of lymphadenopathy with extranodal lesions.

Plasma haemolysis index and interleukine-6 for the early prediction of cardiac surgery-associated acute kidney injury. A proof-of-concept study.

INTRODUCTION: Haemolysis and inflammation contribute to cardiac surgery-associated acute kidney injury (CS-AKI). We aimed to assess the performance of plasma haemolysis index (HI) and interleukine-6 (IL-6) for the prediction of all-stage CS-AKI. We also assessed their ability to predict moderate-to-severe CS-AKI and to discriminate persistent from transient CS-AKI. METHODS: Adult patients undergoing cardiac surgery with cardiopulmonary bypass (CPB) were prospectively included. Haemolysis index and IL-6 were measured immediately after the end of CPB and 6 hours later. Correction for haemodilution relied upon changes in albuminaemia. Persistent CS-AKI was defined as a steady/increasing CS-AKI stage between the 48th and the 60th postoperative hour as compared with the worst stage observed within the 48 first hours. RESULTS: Among 82 patients, CS-AKI occurred in 37 (45%) patients. Postoperative HI and IL-6 were positively correlated to the duration of CPB (r ≤ 0.51, p ≤ 0.0003). Whether we considered isolated measurements of HI or IL-6, their indexation to haemodilution or not, their kinetics and/or their combination, the prediction of all stage CS-AKI was inaccurate (area under the receiver operating characteristic curve [AUCROC]≤ 0.68) whereas moderate-to-severe CS-AKI (6 patients only) was predicted with an honourable performance (AUCROC = 0.77 [95%CI 0.67;0.86] and 0.87 [95%CI 0.77;0.93] for HI and IL-6, respectively). The persistent/transient nature of CS-AKI was inaccurately predicted (AUCROC ≤ 0.68). CONCLUSIONS: In a population in which most CS-AKI cases were mild, although they frequently (41%) persisted >48 hours, CS-AKI was inaccurately predicted by HI and/or IL-6. A better performance for moderate-to-severe CS-AKI prediction is likely. These preliminary findings are yet to be validated.

Barriers and Best Practices in Disclosing a Dementia Diagnosis: A Clinician Interview Study.

The vast majority of individuals with dementia want to receive a diagnosis. Research suggests, however, that only a fraction of individuals with dementia receive a diagnosis and patients and families often feel the information is poorly explained. We thus aimed to assess clinician-reported barriers to dementia disclosure and recommendations for giving a dementia diagnosis. To accomplish this, we performed telephone interviews with 15 clinicians from different specialties using a semi-structured interview guide. Transcripts were analyzed thematically. Clinician-reported barriers fit 3 categories: patient and caregiver-related barriers, clinician-related barriers, and barriers related to the triadic interaction. Patient and caregiver-related barriers included lack of social support, misunderstanding the diagnosis, and denial. Clinician barriers included difficulty giving bad news, difficulty communicating uncertainty, and lack of time. Triadic interaction barriers included challenges meeting multiple goals or needs and family requests for non-disclosure. Recommendations for best practice included for clinicians to foster relationships, educate patients and family, and take a family-centered approach. Clinicians described recommendations for fostering relationships such as using empathic communication and developing and maintaining connection. Educating patients and families included tailoring communication, explaining how the diagnosis was reached, and following up. Family approaches included meeting with family members prior to delivering the diagnosis and involving the caregiver in the discussion. Findings may inform updated recommendations for best practices when communicating a dementia diagnosis.

Circulating microRNA: Myocardium-derived prenatal biomarker of ventricular septal defects.

Background: Recently, circulating microRNAs (miRNAs) from maternal blood and amniotic fluid have been used as biomarkers for ventricular septal defect (VSD) diagnosis. However, whether circulating miRNAs are associated with fetal myocardium remains unknown. Methods: Dimethadione (DMO) induced a VSD rat model. The miRNA expression profiles of the myocardium, amniotic fluid and maternal serum were analyzed. Differentially expressed microRNAs (DE-microRNAs) were verified by qRT-PCR. The target gene of miR-1-3p was confirmed by dual luciferase reporter assays. Expression of amniotic fluid-derived DE-microRNAs was verified in clinical samples. Results: MiRNAs were differentially expressed in VSD fetal rats and might be involved in cardiomyocyte differentiation and apoptosis. MiR-1-3p, miR-1b and miR-293-5p were downregulated in the myocardium and upregulated in amniotic fluid/maternal serum. The expression of amniotic fluid-derived DE-microRNAs (miR-1-3p, miR-206 and miR-184) was verified in clinical samples. Dual luciferase reporter assays confirmed that miR-1-3p directly targeted SLC8A1/NCX1. Conclusion: MiR-1-3p, miR-1b and miR-293-5p are downregulated in VSD myocardium and upregulated in circulation and may be released into circulation by cardiomyocytes. MiR-1-3p targets SLC8A1/NCX1 and participates in myocardial apoptosis. MiR-1-3p upregulation in circulation is a direct and powerful indicator of fetal VSD and is expected to serve as a prenatal VSD diagnostic marker.

Image-guided in-Vivo Needle-Based Confocal Laser Endomicroscopy in the Prostate: Safety and Feasibility Study in 2 Patients.

Purpose: To assess the safety and technical feasibility of in-vivo needle-based forward-looking confocal laser endomicroscopy in prostate tissue. Methods: For this feasibility study, 2 patients with a suspicion of prostate cancer underwent transperineal needle-based confocal laser endomicroscopy during ultrasound-guided transperineal template mapping biopsies. After intravenous administration of fluorescein, needle-based confocal laser endomicroscopy imaging was performed with a forward-looking probe (outer diameter 0.9 mm) in 2 trajectories during a manual push-forward and pullback motion. A biopsy was taken in a coregistered parallel adjacent trajectory to the confocal laser endomicroscopy trajectory for histopathologic comparison. Peri- and postprocedural adverse events, confocal laser endomicroscopy device malfunction and procedural failures were recorded. Needle-based confocal laser endomicroscopy image quality assessment, image interpretation, and histology were performed by an experienced confocal laser endomicroscopy rater and uro-pathologist, blinded to any additional information. Results: In both patients, no peri- and post-procedural adverse events were reported following needle-based confocal laser endomicroscopy. No confocal laser endomicroscopy device malfunction nor procedural failures were reported. Within 1.5 min after intravenous administration of fluorescein, needle-based confocal laser endomicroscopy image quality was sufficient for interpretation for at least 14 min, yielding more than 5000 confocal laser endomicroscopy frames per patient. The pullback confocal laser endomicroscopy recordings and most of the push-forward recordings almost only visualized erythrocytes, being classified as non-representative. During the push-forward recordings, prostate tissue was occasionally visualized in single frames, insufficient for histopathologic comparison. Prostate carcinoma was identified by biopsy in one patient (Gleason score 4 + 3 = 7, >50%), while the biopsy from the other patient showed no malignancy. Conclusion: Needle-based confocal laser endomicroscopy imaging of in-vivo prostate tissue with a forward-looking confocal laser endomicroscopy probe is safe without device malfunctions or procedural failures. Needle-based confocal laser endomicroscopy is technically feasible, but the acquired confocal laser endomicroscopy datasets are non-representative. The confocal laser endomicroscopy images' non-representative nature is possibly caused by bleeding artifacts, movement artifacts and a lack of contact time with the tissue of interest. A different confocal laser endomicroscopy probe or procedure might yield representative images of prostatic tissue.

Presentaciones atípicas de COVID-19: Serie de casos / COVID-19 atypical presentations: Case series

Resumen El objetivo del presente trabajo fue presentar una serie de casos de COVID-19 con manifestaciones atípicas de la enfermedad. Los casos fueron atendidos por un equipo interdisciplinario de personal de la salud de una clínica de cuarto nivel en Barranquilla, Colombia, y posteriormente los investigadores tomaron los datos de las historias clínicas. Se evaluaron tres casos: el primero tuvo evolución tórpida y coinfección con virus de la influenza H1N1 y los otros dos, manifestaciones gastrointestinales como debut de la enfermedad; todos tuvieron desenlace satisfactorio. La pandemia por SARS-CoV-2 cada día cobra más vidas, por lo que para identificar oportunamente a los infectados y tomar medidas tanto terapéuticas como de prevención y así evitar la propagación de la enfermedad y lograr su control, es necesario realizar reportes de caso en donde se evidencie la diversa variedad de presentaciones de COVID-19.

Abstract The objective of this work is to present a series of cases of COVID-19 with atypical manifestations of the disease. The cases were evaluated by an interdisciplinary team of health personnel from a fourth-level clinic in Barranquilla, Colombia, and the data was subsequently taken from the clinical history of each patient. Three cases were evaluated, initially the first case with torpid evolution, coinfection with H1N1 influenza virus, however, with satisfactory outcome, and cases two and three with gastrointestinal manifestations as disease debut, with satisfactory evolution. The SARS-CoV-2 pandemic takes more lives every day, so it is necessary to describe the cases and their diverse variety of presentation, to identify the infected and take both therapeutic and preventive measures. To prevent the spread of the disease and achieve its control.

Prenatal findings, neonatal symptoms and neurodevelopmental outcome of congenital cytomegalovirus infection in a university hospital in Montreal, Quebec.

Background Outcome of congenital cytomegalovirus (cCMV) infection in the absence of routine CMV screening and third-trimester scan in North America is scarcely documented. The aim of this study was to assess the severe outcomes related to cCMV according to the indication for screening. Methods This was a retrospective study of 84 mother-child pairs followed for cCMV between 2003 and 2017 at CHU Sainte-Justine in Montreal, Canada. Prenatal ultrasound, neonatal symptoms, neuroimaging and severe outcomes (cerebral palsy, severe cognitive impairment, bilateral hearing loss or neonatal death) were reviewed. Results Among 38 cases with abnormal prenatal ultrasound, 41.9% of live-born infants developed severe outcomes. Sixteen (42.1%) were detected in the third trimester. Among 16 cases diagnosed prenatally because of maternal history, all had normal prenatal ultrasound, and none developed severe outcomes. Among cases diagnosed postnatally because of neonatal symptoms, 25% developed severe outcomes. All infants who developed severe outcomes had moderate/severe neonatal symptoms. Conclusion Outcome of cCMV infection varies according to the reason for screening and timing of diagnosis. Any prenatal ultrasound anomaly might indicate a risk of severe outcome, and warrants a detailed ultrasound scan. However, late detection, or postnatal diagnosis, represented more than half of the cases, and awareness of this will help ensuring optimal management.

Left Superior Vena Cava in the Fetus: A Rarely Isolated Anomaly.

The frequency of chromosomal anomalies among fetuses with isolated persistent left superior vena cava (PLSVC) is still debated. The objective of the present study was to assess the prevalence of genetic and morphological anomalies identified in fetuses with PLSVC. We conducted a single-center retrospective study including all fetuses diagnosed with a PLSVC between 2010 and 2017. PLSVC was categorized as isolated or associated according to antenatal diagnosis of associated congenital heart defects, hypoplastic aortic isthmus, abnormal venous/arterial connections, and extracardiac anomalies. Among 229 fetuses diagnosed with PLSVC, 39 cases (17%) were strictly isolated and no syndromic/genetic anomaly or aortic coarctation was diagnosed. Seventy-two fetuses had a cardiovascular defect with a rate of genetic anomalies of 22%, 29 had an extracardiac malformation, and 89 had both an extracardiac and a cardiovascular defect. Among fetuses with abnormal development of the arterial/venous system as the only associated anomaly such as aberrant right subclavian artery or absent ductus venosus, 22% had a genetic anomaly. Overall, sixty-five fetuses or infants had a genetic concern, including 23 aneuploidies, 15 pathogenic micro-deletions/duplications, and 5 variants of unknown significance; 12 patients had VACTERL association, and 12 heterotaxy syndrome. Seven infants had an aortic coarctation diagnosed at birth.In conclusion, a thorough prenatal ultrasound examination is paramount, and the identification of variants of the venous/arterial system in addition to PLSVC should raise suspicion for genetic or morphologic abnormalities. Invasive prenatal diagnosis with array-CGH should be offered when PLSVC is non-isolated, after a detailed ultrasound evaluation in a tertiary center.

China Multi-Center Preschool Autism Project (CMPAP): Design and Methodologies to Identify Clinical Symptom Features and Biomarkers of Autism Spectrum Disorders.

Background: The etiology of autism spectrum disorder (ASD) has not yet been fully identified, but it seems to be triggered by complex genetic and environmental risk factors. Moreover, the tremendous etiological and clinical differences among individuals with ASD has had a major negative impact on early diagnosis and individualized treatment. Earlier diagnosis of precise clinical subtypes of ASD could lead to individualized treatment and a better prognosis. However, few large-scale epidemiological studies have explored precise clinical subtypes and clinically meaningful biomarkers, especially in China. Methods and Design: The China Multi-center Preschool Autism Project (CMPAP) includes nearly 3,000 children-1,469 individuals with ASD and 1,499 typically-developing (TD) controls-from 13 cities in China. Using a case-control design, each participant was comprehensively characterized in terms of feeding and disease history, maternal history, family history, clinical core symptoms, comorbidities, biochemical markers, genomics, urine/fecal metabonomics, and intestinal flora. In addition, data on environmental risk factors were obtained using interviews and electronic medical records. Conclusion: The study was designed to: (1) investigate age at diagnosis and treatment and family and social support for preschool children with ASD in China, (2) develop a more accurate clinical subtype and intervention system for the ICD-11, and (3) find the specific genes and environmental markers of different subtypes, which will help in the development of early diagnosis and individual intervention programs for preschool children with ASD. This study will provide the basis for improving national health policies for ASD in China.

Introducción, epidemiología y diagnóstico de la enfermedad de Parkinson / Introduction, epidemiology and diagnosis of Parkinson's disease

RESUMEN La enfermedad de Parkinson es un trastorno neurodegenerativo que tiene múltiples manifestaciones motoras y no motoras. El proceso patológico inicia años o décadas antes del debut de los síntomas no motores, tiempo en el que se desarrollan otros síntomas que muy frecuentemente preceden el inicio clínico. Si bien se ha avanzado mucho en el conocimiento sobre la patogénesis y en el reconocimiento de las numerosas manifestaciones no motoras, el diagnóstico se sigue centrando en el síndrome motor o parkinsonismo. En este capítulo se muestra una actualización sobre datos recientes relacionados con el incremento en la prevalencia mundial de la enfermedad, así como el diagnóstico basado en los nuevos criterios definidos por la Sociedad Internacional de Trastornos del Movimiento en 2015, que se basan en los criterios centrales pero tienen en cuenta banderas rojas para la posible existencia de otros parkinsonismos, criterios de exclusión absoluta y criterios de soporte, éstos últimos reconociendo la utilidad de los síntomas no motores y de algunas ayudas paraclínicas para soportar el diagnóstico in vivo.

SUMMARY Parkinson's disease is a neurodegenerative disorder that has multiple motor and non-motor manifestations. The pathological process begins years or decades before the onset of non-motor symptoms, at which time other symptoms develop that frequently precede clinical debut. Although much progress has been made in the knowledge of pathogenesis and in the recognition of the numerous non-motor manifestations, the diagnosis is still focused on motor syndrome or parkinsonism. This chapter shows an update on recent data related to the increase in the global prevalence of the disease, as well as the diagnosis based on the new criteria defined by the Movement Disorders Society in 2015, which focus on the central criteria but defined red flags for the possible existence of other parkinsonisms, absolute exclusion criteria and support criteria, the latter recognizing the utility of non-motor symptoms and some paraclinical aids to support in vivo diagnosis.

Diagnóstico tardío de VIH/sida en pacientes rurales dado por baja sospecha diagnostica en la comunidad médica. Reportes de caso / Late diagnosis of HIV/AIDS in rural patients due to low diagnostic suspicion among the medical community. Case reports

Resumen Introducción. La prevalencia de la infección por el virus de inmunodeficiencia humana (VIH) en Latinoamérica no ha sido estudiada de forma adecuada, pero se calcula que en Chile la mitad de los pacientes que están infectados no han sido diagnosticados y no están bajo control ni tratamiento. Presentación de los casos. Se presentan dos casos clínicos de pacientes masculinos de 22 y 33 años, sin antecedentes mórbidos, con múltiples consultas en diversos servicios clínicos. El diagnóstico se hizo en etapa sida (síndrome de inmunodeficiencia adquirida), con las complicaciones que se asocian cuando se diagnostica de manera tardía. Conclusiones. El VIH es una patología subdiagnosticada, en su mayoría por falta de sospecha y por los prejuicios de la población respecto a la realización del test de VIH. El cuerpo médico debe tomar la responsabilidad de pesquisar los casos de manera temprana para disminuir el impacto de la enfermedad, en especial en lugares con población vulnerable.

Abstract Introduction: The prevalence of the human immunodeficiency virus (HIV) infection in Latin America has not been adequately studied, but it is estimated that in Chile half of the patients who are infected have not been diagnosed and are not controlled or receiving treatment. Case presentation: This paper presents two clinical cases of male patients aged 22 and 33, without a medical history, and with multiple consultations for different reasons in various clinical services. The diagnosis was made at the AIDS stage (acquired immunodeficiency syndrome), with the complications associated with late diagnosis. Conclusions: HIV is an underdiagnosed pathology, mostly due to lack of suspicion and prejudiced attitudes towards HIV testing. The medical staff should take responsibility for the early study of these cases to reduce the impact of the disease, especially in places where vulnerable populations live.

Is the sum of positive neuroendocrine immunohistochemical stains useful for diagnosis of large cell neuroendocrine carcinoma (LCNEC) on biopsy specimens?

AIMS: Pulmonary large cell neuroendocrine carcinoma (LCNEC) is underdiagnosed on biopsy specimens. We evaluated if routine neuroendocrine immunohistochemical (IHC) stains are helpful in the diagnosis of LCNEC on biopsy specimens. METHODS AND RESULTS: Using the Dutch pathology registry (PALGA), surgically resected LCNEC with matching pre-operative biopsy specimens were identified and haematoxylin and IHC slides (CD56, chromogranin-A, synaptophysin) requested. Subsequently, three pathologists assigned (1) the presence or absence of the WHO 2015 criteria and (2) cumulative size of all (biopsy) specimens. For validation, a tissue microarray (TMA) of non-small-cell lung cancer (NSCLC) (n = 77) and LCNEC (n = 19) was used. LCNEC was confirmed on the resection specimens in 32 of 48 re-reviewed cases. In 47% (n = 15 of 32) LCNEC was also confirmed in the paired biopsy specimens. Neuroendocrine morphology was absent in 53% (n = 17 of 32) of paired biopsy specimens, more often when smaller amounts of tissue were available for evaluation [29% < 5 mm (n = 14) versus 67% ≥5 mm (n = 18) P = 0.04]. Combined with current WHO criteria, positive staining for greater than or equal to two of three neuroendocrine IHC markers increased the sensitivity for LCNEC from 47% to 93% on paired biopsy specimens, and further validated using an independent TMA of LCNEC and NSCLC with sensitivity and specificity of 80% and 99%, respectively. CONCLUSIONS: LCNEC is difficult to diagnose because neuroendocrine morphology is frequently absent in biopsy specimens. In NSCLC devoid of obvious morphological squamous or adenocarcinoma features, positive staining in greater than or equal to two of three neuroendocrine IHC stains supports the diagnosis of LCNEC.

Síndrome de Lyme crónico con manifestaciones neurológicas: a propósito de un caso / Chronic Lyme syndrome with neurological manifestations: A case report

RESUMEN El síndrome de Lyme crónico representa un término controversial que agrupa un conjunto de síntomas persistentes e inespecíficos, en su mayoría reumatológicos o neurológicos, dentro de los cuales se encuentra la enfermedad postLyme, cuya incidencia epidemiológica es baja, el conocimiento fisiopatológico es controversial y el abordaje diagnóstico se basa especialmente en la interpretación clínica, dirigiendo su enfoque terapéutico hacia la resolución sintomática. Se presenta un caso de una mujer de 17 años, con enfermedad de Lyme de reciente diagnóstico, de aparente evolución de 3 años, con diagnóstico previo de enfermedad desmielinizante, que consultó por deterioro neurológico. Se revisan consideraciones científicas sobre su aproximación clínica y principios terapéuticos, los cuales se contrastan con los aplicados.

SUMMARY Chronic Lyme syndrome represents a controversial term that groups together a set of persistent and nonspecific symptoms, mostly rheumatological and / or neurological, among which is the Post Lyme Disease, whose epidemiological incidence is low, pathophysiology is controversial and the diagnostic approach is based especially on clinical interpretation, directing its therapeutic approach towards symptomatic resolution. We present a case of a female patient of 17 years of age with Lyme disease of recent diagnosis of apparent evolution of 3 years, with previous diagnosis of demyelinating disease, who consulted for neurological deterioration. Scientific considerations on its clinical approach and therapeutic principles are reviewed, contrasting them with those applied.

Cuadro clínico del síndrome de apnea-hipopnea obstructiva del sueño (SAHOS) / Clinical picture of obstructive sleep apnea-hypopnea syndrome (OSAHS)

Resumen El pilar para el diagnóstico del síndrome de apnea-hipopnea obstructiva del sueño (SAHOS) es el cuadro clínico obtenido mediante una historia clínica detallada. Los síntomas son referidos por el paciente o su compañero de cama y se pueden dar durante el sueño o la vigilia; estos últimos se presentan como consecuencia del trastorno del sueño. Los síntomas son consecuencia de la obstrucción de la vía aérea superior, de la hipoxia intermitente o de la fragmentación repetida del sueño. Para el diagnóstico de SAHOS, se deben tener en cuenta los factores agravantes, las comorbilidades, los antecedentes familiares, el examen físico, la obtención de medidas antropométricas, los signos vitales y los hallazgos anatómicos estructurales asociados con este síndrome o con alteraciones congénitas que lo predispongan. Tener conocimiento de estos aspectos clínicos es fundamental para alcanzar una buena aproximación a su diagnóstico.

Abstract The baseline for the diagnosis of obstructive sleep apnea-hypopnea syndrome (OSAHS) is the clinical picture obtained through a detailed clinical history. The symptoms are referred by the patients or their bed partners, can occur during sleep or wakefulness, and are a consequence of sleep disorders. Upper airway obstruction, intermittent hypoxia, or repeated sleep fragmentation are the cause of the symptoms. For the diagnosis of OSAHS, aggravating factors, comorbidities, family history, physical examination, anthropometric measurements, vital signs and structural anatomical findings associated with this syndrome or with predisposing congenital abnormalities should be taken into account. Knowing these clinical aspects is fundamental to reach a good approximation to diagnosis.

Diagnóstico y clasificación de la distonía

La distonía es un movimiento involuntario caracterizado por una postura anormal de una o varias partes del cuerpo. Esta revisión aporta la última información respecto a la clasificación y métodos diagnósticos necesarios para acercarnos a la comprensión de este fenómeno.

SUMMARY Dystonia may be defined as movement disorder characterized by an abnormal posture of a one or various segments of the body. This review will focus in the state-of-the art classification and diagnostic clues to bring us closer to understand this syndrome.

Clinical features of brain activation deficit in children / Características clínicas de niños con déficit de activación cerebral general

Abstract Introduction: Brain activation is considered as one of the mechanisms of the brain related to the functional state of deep subcortical structures. A deficit in this mechanism may be involved in behavioral disorders during development and school learning. Objective: To identify the clinical features of Mexican schoolchildren with general brain activation deficit, and to determine the neuropsychological tasks that help to detect this syndrome. Materials and methods: The sample included 20 Mexican schoolchildren attending regular schools and diagnosed with behavioral and/or learning disorders. The types of errors and performance in neuropsychological tasks were analyzed by categories. Results: The results showed that there are common clinical features in schoolchildren, particularly, executive instability, fatigue and/or slow execution, and instability in memory and perceptive graphic tasks. These features can be demonstrated through the qualitative syndromic analysis of perceptive graphic tasks, retention tasks and manual praxis. Conclusions: Qualitative assessment is effective to differentiate this type of cases from other possible neuropsychological conditions.

Resumen Introducción. La activación cerebral general se considera como un mecanismo de trabajo cerebral relacionado con el estado funcional de las estructuras subcorticales profundas; su déficit puede subyacer a los trastornos conductuales durante el desarrollo y el aprendizaje escolar. Objetivos. Precisar las características clínicas de escolares mexicanos con déficit de activación cerebral general e identificar las tareas neuropsicológicas que ayudan a la detección de este síndrome. Materiales y métodos. Se incluyeron 20 casos de escolares mexicanos: alumnos de escuelas regulares con problemas de conducta o aprendizaje que solicitaron apoyo de evaluación neuropsicológica. Se analizaron los tipos de error y la forma de ejecución de tareas neuropsicológicas por categorías. Resultados. Se demostró que existen características clínicas comunes en los escolares evaluados. Como rasgos particulares se identificó inestabilidad en la ejecución de tareas neuropsicológicas, fatiga o lentificación e inestabilidad en el mantenimiento de huellas mnésicas y durante la realización de tareas gráfico-perceptivas. Estos rasgos se evidenciaron a través del análisis sindrómico cualitativo en tareas gráfico-perceptivas, de retención en diversas modalidades y de praxias manuales. Conclusión. Se encontró eficacia clínica de diferenciación en este tipo de casos frente a otras posibles dificultades a nivel neuropsicológico.

Diagnostic Delay of Primary Immunodeficiencies at a Tertiary Care Hospital in Peru- Brief Report.

OBJECTIVE: The aim of the study was to assess the diagnostic delay in pediatric patients with primary immunodeficiencies (PID) at a tertiary care hospital in Peru. METHODS: A descriptive study was carried out in which patients from a third-level referral center in Peru were included. Those without a specific diagnosis of PID were excluded. Data was collected by reviewing the medical records and interviewing patients' family members. RESULTS: A total of 45 patients with a mean of 7.4 years (SD = 4.3) were studied. The most frequent diagnosis was predominant antibody defects (35.5%), and the diagnostic delay had a median of 12.17 months (IQR 5.1-30.3). CONCLUSIONS: The most frequently diagnosed group of PID was predominant antibody deficiency. The overall median diagnostic delays for PID and predominant antibody deficiency were 12 and 14 months, respectively. Even though early detection of PIDs is crucial for effective treatment, current available laboratory tests required for PID diagnosis are both complex and expensive. Early detection and management of these pathologies cannot be achieved without training non-specialist health professionals in the diagnosis of PID, as well as integrating multidisciplinary and multi-center cooperation at both national and international levels.

Diabetes mellitus gestacional: una aproximación a los conceptos actuales sobre estrategias diagnósticas / Gestational Diabetes Mellitus: a review of current diagnostic strategies concepts

Resumen La diabetes mellitus gestacional (DMG) es un estado de intolerancia a los carbohidratos que se reconoce por primera vez durante la gestación. Los criterios iniciales para su diagnóstico fueron establecidos hace más de 50 años por O'Sullivan & Mahan, desde entonces se les han hecho modificaciones. En la actualidad, para el diagnóstico se tienen en cuenta dos métodos: el enfoque de un paso, consistente en una prueba de tolerancia oral a la glucosa (PTOG) de 2 horas con 75g de glucosa, y el enfoque de dos pasos, que se compone por una prueba de tamizaje inicial con 50g de glucosa y una PTOG con 100g de glucosa si el tamizaje fue positivo. Ambos enfoques diagnósticos han sido justificados por consensos de expertos, sin embargo aún no se ha establecido un concepto absoluto sobre qué método aplicar; para la elección del método, el clínico debe tener en cuenta diversos factores. Este artículo propone hacer una descripción histórica y exponer el estado actual del diagnóstico de la DMG.

Abstract Gestational diabetes mellitus (GDM) is a state of carbohydrate intolerance that is first recognized during pregnancy. The initial criteria for diagnosis were established more than 50 years ago by O'Sullivan & Mahan, and since then, some modifications have been made. Currently, diagnosis considers two methods: the one-step approach, consisting of an oral glucose tolerance test (OGTT) for 2 hours with 75g of glucose, and the two-step approach, which involves an initial screening test with 50g of glucose and OGTT with 100g of glucose if screening is positive. Both diagnostic approaches have been justified by expert consensus; however, an absolute concept about the method to be applied has not been established yet. To select a method, the clinician must take into account various factors. This paper proposes a historical overview and the presentation of the current status of GDM diagnosis.