Telangiectasia hemorrágica hereditaria durante el embarazo: Reporte de caso / Hereditary hemorrhagic telangiectasia during pregnancy: Case report

Resumen ANTECEDENTES: La telangiectasia hemorrágica hereditaria, o síndrome de Rendu-Osler-Weber, es una enfermedad vascular, hereditaria y autosómica caracterizada por telangiectasias mucocutáneas y malformaciones arteriovenosas en el pulmón, el cerebro e hígado. La prevalencia estimada es de 1.5 a 2 personas afectadas por cada 10,000 habitantes. El 90% de los casos se debe a una mutación en el gen endoglina y en el de la cinasa 1 similar al receptor de activina (ACVRL1). En la mujer embarazada, la telangiectasia hemorrágica hereditaria es de alto riesgo, sobre todo durante el segundo y tercer trimestre. OBJETIVO: Reportar un caso de telangiectasia hemorrágica hereditaria y exponer las complicaciones que pueden registrarse durante el embarazo. CASO CLÍNICO: Paciente de 23 años, con antecedente heredofamiliar de madre con diagnóstico de telangiectasia hemorrágica hereditaria (síndrome de Osler-Weber-Rendu) que falleció a los 38 años. Antecedente personal patológico de telangiectasia hemorrágica hereditaria, con diagnóstico a los 12 años luego de múltiples episodios de epistaxis. Recibió tratamiento con transfusiones sanguíneas en múltiples ocasiones y 200 mg de sulfato ferroso cada 24 horas. CONCLUSIÓN: La telangiectasia hemorrágica hereditaria condiciona, en la mujer embarazada, la aparición de complicaciones que pueden poner en riesgo la vida de la madre y el feto. Las mujeres con antecedente conocido deben valorarse antes de la concepción con el propósito de conocer el estado de la enfermedad.

Abstract BACKGROUND: Hereditary hemorrhagic telangiectasia, or Rendu-Osler-Weber syndrome, is an autosomal inherited vascular disease characterized by mucocutaneous telangiectasias and arteriovenous malformations in the lung, brain and liver. The estimated prevalence is 1.5 to 2 affected persons per 10,000 population. Ninety percent of cases are due to a mutation in the endoglin gene and in the activin receptor-like kinase 1 gene (ACVRL1). In pregnant women, hereditary hemorrhagic telangiectasia is high risk, especially during the second and third trimester. OBJECTIVE: To report a case of hereditary hemorrhagic telangiectasia and to expose the complications that can occur during pregnancy. CLINICAL CASE: 23-year-old patient, with hereditary family history of mother diagnosed with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) who died at 38 years of age. Personal pathological history of hereditary hemorrhagic telangiectasia, diagnosed at the age of 12 years after multiple episodes of epistaxis. She was treated with multiple blood transfusions and 200 mg of ferrous sulfate every 24 hours. CONCLUSION: Hereditary hemorrhagic telangiectasia conditions, in pregnant women, the appearance of complications that can put the life of the mother and fetus at risk. Women with a known history should be evaluated before conception in order to know the status of the disease.

Asociación entre el hiperparatiroidismo secundario a la deficiencia de vitamina D en el embarazo y la frecuencia de preeclampsia / Association between hyperparathyroidism secondary to vitamin D deficiency in pregnancy and the frequency of preeclampsia

Resumen OBJETIVO: Establecer si existe asociación entre el hiperparatiroidismo secundario a una deficiencia de vitamina D en el embarazo y la frecuencia de preeclampsia. MATERIALES Y MÉTODOS: Estudio de casos y controles, prospectivo y longitudinal efectuado en pacientes con y sin preeclampsia que entre el 1 de enero y el 30 de junio del 2021 acudieron al Hospital Universitario de la Universidad Autónoma de Nuevo León para la atención del parto. Criterios de inclusión: pacientes embarazadas con diagnóstico de preeclampsia en el último trimestre de la gestación con tensión arterial igual o mayor a 140-90 mmHg y proteinuria igual o mayor a 30 mg/dL. Para el grupo control: embarazadas sanas, sin diagnóstico de preeclampsia en el último trimestre de la gestación. Criterios de exclusión: tabaquismo, alcoholismo y drogadicción y quienes no aceptaron entrar al estudio o tuvieran diagnóstico de enfermedades médicas crónicas. RESULTADOS: Se estudiaron 90 pacientes divididas en dos grupos: con preeclampsia (n = 45) y sin ésta (control, n = 45). Se encontró una relación entre la deficiencia de vitamina D, la hipocalcemia y la preeclampsia; no así entre la paratohormona y la preeclampsia en los rangos internacionales de la primera. La preeclampsia se encontró con mayor frecuencia en pacientes de 12 a 15 años. CONCLUSIONES: El hiperparatiroidismo secundario a la deficiencia de vitamina D en el embarazo no se observó en pacientes con preeclampsia, quienes sí la padecieron tuvieron concentraciones de paratohormona en límites normales. Se encontró una relación entre la deficiencia de vitamina D, la hipocalcemia y la preeclampsia.

Abstract OBJECTIVE: To establish whether there is an association between hyperparathyroidism secondary to vitamin D deficiency in pregnancy and the frequency of preeclampsia. MATERIALSAND METHODS: Case-control, prospective, longitudinal study performed in patients with and without preeclampsia who between January 1 and June 30, 2021 attended the Hospital Universitario of the Universidad Autónoma de Nuevo Leon for delivery care. Inclusion criteria: pregnant patients with a diagnosis of preeclampsia in the last trimester of gestation with blood pressure equal to or greater than 140-90 mmHg and proteinuria equal to or greater than 30 mg/dL. For the control group: healthy pregnant women without a diagnosis of preeclampsia in the last trimester of gestation. Exclusion criteria: smoking, alcoholism and drug addiction and those who did not agree to enter the study or had a diagnosis of chronic medical diseases. RESULTS: We studied 90 patients divided into two groups: with preeclampsia (n = 45) and without preeclampsia (control, n = 45). A relationship was found between vitamin D deficiency, hypocalcemia, and preeclampsia; a relationship was not found between parathormone and preeclampsia in the international parathormone ranges. Preeclampsia was found more frequently in patients aged 12 to 15 years. CONCLUSIONS: Hyperparathyroidism secondary to vitamin D deficiency in pregnancy was not observed in patients with preeclampsia; those who had it had parathormone concentrations in normal limits. A relationship was found between vitamin D deficiency, hypocalcemia, and preeclampsia.

Moral Distress: Its Manifestations in Healthy Donors during Peripheral Blood Hematopoietic Stem Cell Harvesting.

Hematopoietic stem cell donors (HSCDs) may have ambivalent feelings about donation. These feelings are related to moral obligation to help a sick relative and/or fear about the donation procedure. This ambivalence can produce moral distress (MD) and anxiety, which are usually unnoticed by the treating physician. The aim of this study was to evaluate the incidence of MD and anxiety in a group of related HSCDs for allogeneic transplantation. In this prospective observational study, to assess MD and anxiety, we applied 3 self-answered questionnaires-a questionnaire developed to assess MD (MDQ), State Trait Anxiety Index (STAI), and Edmonton Symptom Assessment System (ESAS)-before, during, and after hematopoietic stem cell donation. A total of 60 consecutive related HSCDs with a mean age of 38.2 years were included. Thirty-six were male. Hematopoietic stem cell collections were done by apheresis, performed as an outpatient process in all cases. The incidence of MD during the donation process was 56%. The proportion of HSCDs with moderate to high state anxiety decreased significantly from before donation (63%) to after donation (30%). Higher scores for MD correlated with higher scores on the STAI questionnaire (r = 0.448; P < .005). Thirty-seven donors (62%) had at least 1 physical symptom even before the stem cell mobilization process started, mainly anxiety (33%), difficulty sleeping (33%), and fatigue (30%). The number of symptomatic donors increased during donation (100%) and decreased after the procedure (80%). We conclude that MD and anxiety symptoms experienced by HSCDs are very common and can be explained by mixed feelings about the donation process. Providing comprehensive psychological support before starting the donation process and guaranteeing respect for the donor's autonomy are needed to decrease the negative impact of the donation experience.

Tratamiento y desenlace obstétrico de una paciente con artrogriposis múltiple congénita / Clinical treatment and outcome of a patient with arthrogryposis multiplex congenita

Resumen ANTECEDENTES: La artrogriposis múltiple congénita es una alteración excepcional, caracterizada por contracturas musculares en diversas partes del cuerpo. Las pacientes embarazadas con esta enfermedad tienen mayor riesgo de complicaciones obstétricas. CASO CLÍNICO: Paciente de 19 años, con artrogriposis múltiple congénita, de ocho semanas de embarazo, quien acudió al servició médico para iniciar el control prenatal. Recibió asesoría de los riesgos cardiovasculares y del sistema respiratorio, secundarios a la enfermedad de base, que pudieran exacerbarse por el embarazo. El ultrasonido efectuado en la semana 22 del embarazo no reportó alteraciones estructurales. La paciente continuó en control prenatal, sin dificultad respiratoria ni alteraciones cardiovasculares. No recibió anticoagulantes profilácticos, ni manifestó signos de trombosis durante el embarazo. Se decidió la interrupción del embarazo por cesárea, debido a la limitación del movimiento de la cadera. Se programó para cirugía en la semana 38.3 del embarazo, con valoración del servicio de Cardiología, quienes reportaron fracción de eyección del ventrículo izquierdo adecuada y sin evidencia de miocardiopatía. Se aplicó anestesia por vía epidural sin complicaciones. El examen físico del neonato no mostró alteraciones. Actualmente, la madre y su hijo permanecen con buen estado de salud. CONCLUSIONES: Las pacientes embarazadas con artrogriposis múltiple congénita deben recibir asesoría de los riesgos inherentes y posibles complicaciones de la enfermedad. Es importante la intervención de un equipo multidisciplinario, para evaluar la función cardiovascular y respiratoria, además de efectuar revisiones seriadas para asegurar el bienestar materno-fetal.

Abstract BACKGROUND: Arthrogryposis multiplex congenita is a rare entity characterized by the appearance of multiple muscle contractures in various parts of the body. Pregnant patients with this condition have a higher risk of complications in obstetric management. CLINICAL CASE: A 19-year-old patient, with arthrogryposis multiplex congenita, eight weeks pregnant, attended in medical service to start prenatal care. Received advice on the cardiovascular and respiratory system risks, secondary to the underlying disease, that could be exacerbated by pregnancy. The ultrasound during the 22nd week of pregnancy did not report any structural alterations. The patient continued in prenatal control, without respiratory difficulty or cardiovascular alterations. Did not receive prophylactic anticoagulants, neither showed signs of thrombosis. We decide finished the pregnancy by caesarean section, due to the limited movement of the hip. Surgery was scheduled at week 38.3 of pregnancy, with assessment by the Cardiology service, who reported adequate left ventricular ejection fraction and no evidence of cardiomyopathy. Epidural anesthesia was applied without complications. The physical examination of the newborn showed no alterations. Currently, the mother and her son remain in good health. CONCLUSIONS: In pregnant patients with arthrogryposis multiplex congenita its important to explain the inherent risks of their condition and their possible complications. Multidisciplinary management should be performed with cardiovascular, respiratory, and serial reviews to ensure the welfare of the maternal-fetal binomial.

Comparative analysis of iron status and other hematological parameters in preeclampsia.

OBJECTIVE: To compare serum ferritin (SF) concentrations and other hematological parameters between patients with preeclampsia (PE) and normal pregnant women of the same gestational period who received supplemental iron during pregnancy. METHODS: Prospective, comparative, observational pilot study that included 31 women with PE and 30 healthy pregnant women, at 20 weeks' of gestation. Ferritin, iron and complete blood cell count were compared between groups. RESULTS: In comparison with controls, preeclamptic patients had a higher weight, body mass index, and arterial pressure. Serum ferritin and serum iron were higher in patients with PE (median: 36.5 µg/l vs. 20.9 µg/l and 103.9 µg/dl vs. 90.8 µg/dl) with a significant difference (P = 0.019 and P = 0.345). SF values >40 µg/l correlated with PE (r = 0.281; P = 0.032). A platelet count less than 100 × 109/l was higher in the PE group than in the control group (13% vs. 3%, P = 0.354). CONCLUSION: Higher SF levels, despite being within normal range, were associated with PE. The incidence of thrombocytopenia was higher in preeclamptic women, however, the remaining hematological parameters were similar in both groups.