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.

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...