Multidisciplinary Workup for Stillbirth at a Tertiary-Care Hospital in Northeast Mexico: Findings, Challenges and Perspectives.

OBJECTIVES: Stillbirth is an important health problem, and in Mexico, only half of the stillbirths have an explainable cause. The aim of this study was to implement a multidisciplinary workup to identify the etiology and potential risk factors for stillbirth at the Hospital Universitario "Dr. José Eleuterio González". METHODS: This is a prospective, descriptive, observational study that included stillbirths from the Obstetrics Service from October 1st, 2019 to May 25, 2020. Evaluation strategies included a complete maternal medical history, physical examination of the fetus, and a photographic medical record. For every stillbirth either a prenatal ultrasound, a postnatal x-ray, or a fetal autopsy, were needed. Multiplex Ligation Probe Amplification (MLPA) was performed with an umbilical cord sample. RESULTS: Thirty-three stillbirths were reported; 21 were included in the analysis. Eleven women (52.3%) had known risk factors for stillbirth, mainly elevated body mass index and diabetes. On physical examination, external birth defects were found in 8 fetuses (38%). X-ray was performed in 14 cases (66%), alterations were detected as a probable etiologic cause just in one. All cases underwent MLPA, which were reported negative. Three cases had criteria for autopsy. Findings were inconclusive to determine etiology. CONCLUSIONS: The best tools for evaluation of stillbirth were the elaboration of clinical history, physical examination, and prenatal ultrasound. Diabetes and obesity were the most frequent risk factors found in our population. These factors are preventable by implementing strategies that lead to better prenatal care.

Stillbirth is a health problem whose causes are rarely evaluated and explained to the families that go through this situation. To completely explain the causes of stillbirth a complete workup should be performed, where a multidisciplinary participation is needed. Mainly these workups have been performed retrospectively, however we introduce a complete evaluation of stillbirth since the moment of arrival to obstetrics department and performing evaluations for fetal, maternal or combined causes, including genetic testing; detecting key health issues in our population, that can be prevented with an adequate prenatal care.

Free amino acid and acylcarnitine values in Ursus americanus Pallas 1780 (black bear) from Northeastern Mexico.

INTRODUCTION: Ursus americanus Pallas 1780 is the largest carnivore and the only ursid in Mexico. It is considered an endangered species in the country because its distribution and population have been reduced by up to 80% because of habitat loss or furtive hunting. These problems can lead to a diet change, which could result in metabolic disorders, such as fatty acid ß-oxidation defects or organic acid metabolism disorders. In our study, a free amino acid and acylcarnitine profile was characterized. METHODS: Peripheral blood samples were drawn from nine free-ranging black bears in a period of five months, from June to October of 2019 in Northeastern Mexico, and 12 amino acids and 30 acylcarnitines were determined and quantified. Age differences were observed in the samples through ANOVA and post-hoc Tukey test. RESULTS: Only three metabolites showed a significant difference with age: alanine (Ala) [cubs vs juvenile], free-carnitine (C0) [juvenile vs cubs] and acetylcarnitine (C2) [cubs vs adults and juvenile vs cubs]. CONCLUSION: Metabolites with variability due to age were identified, making them potential biomarkers to monitor metabolic status as early diagnosis in endangered species. This is the first study of black bear amino acid and acylcarnitine profiles, and the values found could be used as reference for free amino acid and acylcarnitine concentrations in further studies of the species.

Modifications in self-care, quality of life and therapeutic adherence in patients with rheumatoid arthritis during the SARS-CoV-2 pandemic treated by telehealth

Introduction: Rheumatoid arthritis (RA) is an autoimmune disease characterized by chronic inflammation, causing pain and stiffness in the joints. SARS-CoV-2 increases the clinical vulnerability of the population with RA and has led to the implementation and/or development of telemedicine. Objective: To describe changes in level of therapeutic adherence, quality of life and capacity for self-care agency, during the follow-up period of a group of patients linked to a non-face-to-face multidisciplinary consultation model during the SARS-CoV-2 pandemic. Methodology: Descriptive cohort study (July to October 2020). Description of the level of therapeutic adherence (Morisky Green Test), quality of life (EuroQOL-5-Dimensions-3-Level-version) and self-care capacity (ASA-R Scale) in the context of a telehealth model. A univariate and bivariate analysis was performed (Stata Software, Considered p-value <0.05). Results: Of 71 patients treated under the telehealth model, 85.9% were women, the age range was between 33 and 86 years with a median of 63. The most prevalent comorbidity was arterial hypertension (35.2%). Quality of life did not change during follow-up nor did adherence to treatment, apart from in one item [the patients did not stop taking the medication when they were well (p = 0.029)]. In self-care capacity, there were significant improvements in five dimensions (p < 0.05), without significant differences in the global score. Conclusion: Patients with RA evaluated in the context of telehealth in a period of pandemic did not present significant changes in quality of life, adherence to treatment, or capacity for self-care, and remained close to baseline values when they attended a traditional face-to-face assessment.

INTRODUCCIÓN: La artritis reumatoide (AR) es una enfermedad autoinmune caracterizada por una inflamación crónica que produce dolor y rigidez articular. El SARS-CoV-2 aumenta la vulnerabilidad clínica en pacientes con AR, lo que ha conllevado la implementación o el desarrollo de la telesalud. OBJETIVO: Describir los cambios en el nivel de adherencia terapéutica, la calidad de vida y la capacidad de autocuidado durante el periodo de seguimiento, en un grupo de pacientes con AR vinculados con un modelo de consulta multidisciplinar no presencial, en el curso de la pandemia por SARS-CoV-2. METODOLOGÍA: Estudio de cohorte descriptiva (julio a octubre del 2020). Descripción del nivel de adherencia terapéutica (TEST MORISKY GREEN), calidad de vida (EUROQOL-5-DIMENSIONS-3-LEVEL-VERSION) y capacidad de autocuidado (Escala ASA-R) en el contexto de un modelo de telesalud. Se realizó análisis univariado y bivariado (SOFTWARE Stata®, valor de p considerado <0,05). RESULTADOS: De 71 pacientes atendidos en modalidad de telesalud, el 85,9% fueron mujeres, la mediana de la edad fue de 63 (33-86) anos. La comorbilidad más prevalente fue la hipertensión (35,2%). La calidad de vida no tuvo cambios durante el seguimiento, al igual que la adherencia al tratamiento, excepto en uno de los ítems (los pacientes no dejaron de tomar la medicación cuando se encontraban bien; p = 0,029). En la capacidad de autocuidado hubo mejoras significativas en 5 dimensiones (p < 0,05), sin diferencias significativas en el puntaje global. CONCLUSIÓN: Los pacientes con AR evaluados en el contexto de la telesalud, en un periodo de pandemia, no presentaron cambios significativos en la calidad de vida, la adherencia al tratamiento y la capacidad de autocuidado; se mantuvieron en niveles similares a los valores basales cuando asistían a valoración tradicional presencial.

Evaluation of a Non-Face-to-Face Multidisciplinary Health Care Model in a Population with Rheumatoid Arthritis Vulnerable to COVID-19 in a Health Emergency Situation.

This study evaluated a non-face-to-face-multidisciplinary consultation model in a population with rheumatoid arthritis (RA) during the COVID-19 pandemic. This is an analytical observational study of a prospective cohort with simple random sampling. RA patients were followed for 12 weeks (Jul-Oct 2020). Two groups were included: patients in telemedicine care (TM), and patients in the usual face-to-face care (UC). Patients could voluntarily change the care model (transition model (TR)). Activity of disease, quality of life, disability, therapeutic adherence, and self-care ability were analyzed. Bivariate analysis was performed. A qualitative descriptive exploratory study was conducted. At the beginning, 218 adults were included: (109/TM-109/UC). The groups didn't differ in general characteristics. At the end of the study, there were no differences in TM: (n = 71). A significant (p < 0.05) decrease in adherence, and increase in self-care ability were found in UC (n = 18) and TR (n = 129). Seven patients developed COVID-19. Four categories emerged from the experience of the subjects in the qualitative assessment (factors present in communication, information and communication technologies management, family support and interaction, and adherence to treatment). The telemedicine model keeps RA patients stable without major differences compared to the usual care or mixed model.

Clinical Outcomes of Patients with Rheumatoid Arthritis Treated in a Disease Management Program: Real-World Results.

BACKGROUND: Care models can affect the clinical outcome of patients with rheumatic and musculoskeletal diseases. OBJECTIVE: We aimed to compare how an innovative model of a rheumatoid arthritis disease-management program can improve the clinical outcomes of patients compared to a conventional assessment approach. METHODS: We performed a retrospective analysis of real-world data from clinical records of a cohort of 5078 patients diagnosed with rheumatoid arthritis who were followed up at the Center of Excellence in Rheumatoid Arthritis vs the clinical outcomes reported in the Colombian National Registry of Rheumatoid Arthritis. RESULTS: We found significant differences in the diagnosis and follow-up between the specialized Center program and the usual care reported by the Colombian National Registry (p<0.005), including the evaluation of rheumatoid factor, Anti-citrullinated antibodies Disease Activity Score, Health Assessment Questionnaire, number of visits to the rheumatologist, and clinical outcomes measured by the level of disease activity. In addition, when comparing the Center's clinical outcomes - from baseline to the last follow-up, we found an improvement in the level of disease activity, with patients classified in remission increasing from 20.8% to 58.5% (p<0.005), and a reduction in those with high disease activity from 18% to 4.7% (p<0.005). CONCLUSION: Real-world evidence showed that patients with rheumatoid arthritis who underwent follow-up under an innovative disease-management model improved their clinical outcomes compared with those patients in a conventional assessment program. These results could suggest a way of improving health policies for patients with rheumatoid arthritis.

Compromiso pulmonar en pacientes con infección por el virus de inmunodeficiencia humana (VIH) / Pulmonary Manifestations in Patients with Human Immunodeficiency Virus (HIV) Infection

El virus de la inmunodeficiencia humana (VIH) continúa siendo un problema de salud pública mundial, a pesar de la introducción de la terapia antirretroviral y la profilaxis frente a patógenos oportunistas. El pulmón es uno de los órganos más afectados por condiciones tanto infecciosas como no infecciosas en el contexto de la enfermedad retroviral; sin embargo, la prevalencia de las enfermedades de las vías respiratorias ha cambiado en las últimas dos décadas, tanto local como globalmente, por lo que se decidió realizar una búsqueda de la literatura más reciente en las bases de datos Medline y SciELO, incluyendo revisiones de tema y estudios originales, con el objetivo de elaborar una descripción actualizada de las principales enfermedades pulmonares descritas en pacientes con VIH, desde los puntos de vista clínico, paraclínico, radiológico y broncoscópico.

Human immunodeficiency virus (HIV) remains a public health problem worldwide, despite the introduction of antiretroviral therapy and prophylaxis against opportunistic pathogens. The lung is one of the most affected organs by both infectious and non-infectious diseases in the context of HIV, however, the prevalence of respiratory tract diseases has changed over the past two decades, both locally and globally, therefore, the authors decided to conduct a search of the most recent literature on Medline and SciELO databases, including reviews and original studies, with the aim of elaborating an updated description of the main pulmonary diseases in patients with HIV, taking into account clinical, paraclinical, radiological and bronchoscopic aspects.

Nueva mutación en el gen RAB27A en una familia mexicana con Síndrome de Griscelli tipo 2 / New RAB27A gene mutation in a Mexican family with type 2 Griscelli syndrome

El síndrome de Griscelli (SG) es una enfermedad autosómica recesiva, caracterizada, según las variantes clínicas, por albinismo parcial o cabello platinado, inmunodeficiencia celular, hipogammaglobulinemia, pancitopenia y severo deterioro neurológico. El diagnóstico se realiza de acuerdo a los hallazgos histopatológicos de la biopsia de piel, las manifestaciones clínicas descriptas y el análisis molecular de los genes RAB27A y MYO5A. Se describe un caso de SG, confirmado mediante estudio molecular, en una familia mexicana con antecedentes de consanguinidad tío paterno-sobrina y una hermana mayor con característiscas similares, fallecida a los 4 años. El paciente, al nacer, había tenido diagnóstico de albinismo. Se presentó a la consulta con historia de infecciones frecuentes y fiebres recurrentes sin foco y se encontró bicitopenia y síndrome mieloproliferativo. Ante la sospecha diagnóstica, se realizó una microscopía del cabello, en la que se observó distribución del pigmento en cúmulos y en los frotis hemáticos se determinó la ausencia de inclusiones intracitoplasmáticas. Se estableció el diagnóstico de SG tipo 2 y se obtuvo una muestra de ADN para el estudio molecular del gen RAB27A. El examen confirmó una mutación homocigota no comunicada previamente, por lo que se dedujo que su hermana había tenido la misma afección y que el padre era portador obligado...(AU)

Griscelli syndrome (GS) is an autosomal recessive disease characterized by partial albinism or platinum hair, varying cell immunodeficiency, hypogammaglobulinemia, pancytopenia and severe neurological impairment, depending on clinical variants. The diagnosis is made with histopathological findings in skin biopsy, the clinical manifestations described and molecular analysis of the genes RAB27A and MYO5A. We describe a case of GS, confirmed by molecular study, in a Mexican family with a history of paternal uncle-niece consanguinity and a sister with similar characteristics, deceased at 4 years old. At birth, the patient was diagnosed as albinism. He presented to us with a history of frequent infections and recurrent fevers of unknown origin and a bicytopenia and a myeloproliferative syndrome were found. With diagnostic suspicion, a mycroscopic study of the hair was done and the findings were consistent with pigment distribution in clusters and in hematological smears the absence of intracytoplasmic inclusions was demonstrated. Therefore the diagnosis of GS type 2 was established and a DNA sample was obtained for RAB27A gene molecular study. The exam confirmed a previously unreported homozygous mutation in the gene RAB27A, so it was established that his sister had the same condition and the father was a forced carrier...(AU)

Nueva mutación en el gen RAB27A en una familia mexicana con Síndrome de Griscelli tipo 2 / New RAB27A gene mutation in a Mexican family with type 2 Griscelli syndrome

El síndrome de Griscelli (SG) es una enfermedad autosómica recesiva, caracterizada, según las variantes clínicas, por albinismo parcial o cabello platinado, inmunodeficiencia celular, hipogammaglobulinemia, pancitopenia y severo deterioro neurológico. El diagnóstico se realiza de acuerdo a los hallazgos histopatológicos de la biopsia de piel, las manifestaciones clínicas descriptas y el análisis molecular de los genes RAB27A y MYO5A. Se describe un caso de SG, confirmado mediante estudio molecular, en una familia mexicana con antecedentes de consanguinidad tío paterno-sobrina y una hermana mayor con característiscas similares, fallecida a los 4 años. El paciente, al nacer, había tenido diagnóstico de albinismo. Se presentó a la consulta con historia de infecciones frecuentes y fiebres recurrentes sin foco y se encontró bicitopenia y síndrome mieloproliferativo. Ante la sospecha diagnóstica, se realizó una microscopía del cabello, en la que se observó distribución del pigmento en cúmulos y en los frotis hemáticos se determinó la ausencia de inclusiones intracitoplasmáticas. Se estableció el diagnóstico de SG tipo 2 y se obtuvo una muestra de ADN para el estudio molecular del gen RAB27A. El examen confirmó una mutación homocigota no comunicada previamente, por lo que se dedujo que su hermana había tenido la misma afección y que el padre era portador obligado...

Griscelli syndrome (GS) is an autosomal recessive disease characterized by partial albinism or platinum hair, varying cell immunodeficiency, hypogammaglobulinemia, pancytopenia and severe neurological impairment, depending on clinical variants. The diagnosis is made with histopathological findings in skin biopsy, the clinical manifestations described and molecular analysis of the genes RAB27A and MYO5A. We describe a case of GS, confirmed by molecular study, in a Mexican family with a history of paternal uncle-niece consanguinity and a sister with similar characteristics, deceased at 4 years old. At birth, the patient was diagnosed as albinism. He presented to us with a history of frequent infections and recurrent fevers of unknown origin and a bicytopenia and a myeloproliferative syndrome were found. With diagnostic suspicion, a mycroscopic study of the hair was done and the findings were consistent with pigment distribution in clusters and in hematological smears the absence of intracytoplasmic inclusions was demonstrated. Therefore the diagnosis of GS type 2 was established and a DNA sample was obtained for RAB27A gene molecular study. The exam confirmed a previously unreported homozygous mutation in the gene RAB27A, so it was established that his sister had the same condition and the father was a forced carrier...