Resumo O objetivo do trabalho consiste em avaliar o desempenho de serviços de atenção primária à saúde (APS) do estado de São Paulo para prevenção, detecção e assistência à deficiência. Realizou-se uma pesquisa avaliativa em 2.739 serviços de saúde em 514 municípios com 128 indicadores da qualidade organizacional do instrumento QualiAB referentes à dimensão avaliativa “Atenção à deficiência em serviços de atenção primária à saúde”. Foram utilizadas medidas de desempenho e associações entre os escores de cada domínio e variáveis independentes sobre planejamento, avaliação em saúde e rede de apoio, por meio de regressão linear múltipla. O percentual de desempenho para a dimensão foi de 61,6%, para o domínio estrutura (insumos e recursos humanos), 73,6%, para qualificação da atenção ao pré-natal, 68,7%, qualificação da atenção à saúde da criança, 56,1%, prevenção de incapacidades relacionadas a condições crônicas, 55,8%, e atenção à pessoa com deficiência e ao cuidador, 53,9%. Houve associação significativa com variáveis relacionadas ao tipo de serviço e de participação em avaliações de serviços. Os serviços de APS ainda realizam ações incipientes para prevenção, vigilância e diagnóstico das deficiências, assim como para a atenção integral a pessoas com deficiência. (APS Realizouse Realizou se 2739 2 739 2.73 51 12 Atenção saúde. . saúde” planejamento apoio múltipla 616 61 6 61,6% insumos humanos, humanos , humanos) 736 73 73,6% prénatal, prénatal pré natal, natal pré-natal 687 68 7 68,7% criança 561 56 1 56,1% crônicas 558 55 8 55,8% cuidador 539 53 9 53,9% deficiências 273 2.7 5 61,6 73,6 68,7 56,1 55,8 53,9 27 2. 61, 73, 68, 56, 55, 53,

Abstract The objective of this study was to assess the performance of primary health care (PHC) services for disability prevention, detection and assistance in the state of São Paulo. The study included 2739 health services, from 514 municipalities. 128 organizational quality indicators of the QualiAB instrument referring to the evaluative dimension “Attention to disability in primary health care services”. The association of health care performance score of each domain with independent variables, health assessment, and support network were tested using of multiple linear regression. The performance percentage was 61.6% for all domains, 73.6% for structure (inputs and human resources), 68.7% for qualification of prenatal care, 56.1% for qualification of child health care, 55.8% for prevention of disabilities related to chronic conditions, and 53.9% for attention to people with disabilities and caregivers. There was a significant association with variables related to the type of service and participation in service evaluations. PHC services still perform incipient actions for the prevention, surveillance and diagnosis of disabilities as well as for comprehensive care for people with disabilities. (PHC Paulo 273 51 municipalities 12 Attention services. . services” assessment regression 616 61 6 61.6 domains 736 73 73.6 inputs resources, resources , resources) 687 68 7 68.7 561 56 1 56.1 558 55 8 55.8 conditions 539 53 9 53.9 caregivers evaluations 27 5 61. 73. 68. 56. 55. 53. 2

Abstract Congenital knee dislocation (CKD), a rare yet impactful condition, presents challenges in diagnosis and treatment. We report a clinical case of a prenatally diagnosed CKD at 31+4 weeks of gestation, emphasizing multidisciplinary management’s pivotal role. An early orthopedic intervention, with conservative measures, was fundamental to achieve a favorable infant outcome, underlining the importance of timely diagnosis and expert care. Prenatal CKD ultrasound screening therefore emerges as a crucial tool in guiding therapeutic decisions, optimizing postnatal outcomes, and reducing the need for surgical intervention.

Resumo A luxação congênita do joelho (CKD), uma condição rara porém impactante, apresenta desafios no diagnóstico e tratamento. Apresentamos um caso clínico de CKD com diagnóstico pré-natal, às 31+4 semanas de gestação, enfatizando o papel fundamental da abordagem multidisciplinar. A intervenção ortopédica precoce, com medidas conservadoras, foi fundamental para alcançar um desfecho favorável para a criança, destacando a importância do diagnóstico precoce e do cuidado especializado. O rastreio pré-natal por ecografia da CKD surge, portanto, como uma ferramenta crucial na orientação das decisões terapêuticas, otimizando os resultados pós-natais e reduzindo a necessidade de intervenção cirúrgica.

Abstract Primary intestinal lymphangiectasia (PIL) is a rare disease that was discovered in 1961 by Waldmann et al., who first described the concept of intestinal lymphangiectasia. PIL is manifested by large and dilated intestinal lymphatic vessels that lead to the loss of lymphatic fluid to the intestinal lumen, including severe hypoalbuminemia and, consequently, generalized edema. The etiology of PIL is unknown; however, several genes are involved in the development of the lymphatic system. The case of a two-month-old patient with a prenatal diagnosis of ascites on third-trimester ultrasound was presented. The patient was born with rapidly progressive ascites and showed an endoscopic study with evidence of snowflake images and histology compatible with intestinal lymphangiectasia. The patient remained on octreotide infusion at baseline and subsequently with refractory ascites the dose was increased. Several evacuatory paracentesis were performed and he remained on enteral nutrition based on an extensively hydrolyzed formula with a 54% contribution of medium chain triglycerides (MCTs) and parenteral nutrition (PN). Subsequently, the patient was switched to a subcutaneous infusion of octreotide, which allowed hospital discharge and adequate outpatient follow-up with a favorable evolution.

Resumen La linfangiectasia intestinal primaria (LIP) es una enfermedad rara que se descubrió en 1961 por Waldmann y colaboradores, quienes describieron por primera vez el concepto de linfangiectasia intestinal. La LIP se manifiesta por vasos linfáticos intestinales grandes y dilatados que conllevan la pérdida de líquido linfático hacia la luz intestinal, siendo responsable de una hipoalbuminemia grave y, en consecuencia; de un edema generalizado. La etiología de la LIP es desconocida, sin embargo, varios genes están implicados en el desarrollo del sistema linfático. Se presenta el caso de una paciente de dos meses de edad con diagnóstico prenatal de ascitis en ecografía de tercer trimestre. Nació con ascitis rápidamente progresiva y presentó un estudio endoscópico con evidencia de imágenes en copos de nieve e histología compatible con linfangiectasia intestinal. Se mantuvo en tratamiento con infusión de octreotida al inicio y posteriormente con ascitis refractaria se aumentó la dosis. Se realizaron varias paracentesis evacuatorias y permaneció con nutrición enteral a base de una fórmula extensamente hidrolizada con aporte del 54% de triglicéridos de cadena media (TCM) y nutrición parenteral (NPT). Más tarde, se cambió a infusión de octreotida por vía subcutánea, lo que permitió el alta hospitalaria y un seguimiento adecuado por consulta externa con una evolución favorable.

Abstract Background: Long QT syndrome is a channelopathy that affects ventricular repolarization and increases the risk of severe ventricular arrhythmias. It can be congenital or acquired, and is a known cause of sudden cardiac death. Case report: A 28-year-old primigravida with no significant medical history. Prenatal ultrasounds revealed sustained fetal sinus bradycardia from week 28, without hemodynamic repercussion, which persisted until the end of gestation (at 37+3 weeks). Serial electrocardiograms were performed after birth, showing repolarization abnormalities with prolonged corrected QT interval. A genetic study confirmed long QT syndrome type 1, and oral treatment with beta-blockers was initiated, showing a positive response. Conclusions: Long QT syndrome is often diagnosed postnatally. It is important to be aware of his prenatal clinical features in order to establish an early diagnosis and minimize the risk of sudden death in these patients.

Resumen Antecedentes: El síndrome de QT largo es una canalopatía que afecta a la repolarización ventricular y aumenta el riesgo de sufrir arritmias ventriculares graves. Puede ser congénito o adquirido, y es una causa conocida de muerte súbita. Caso clínico: Gestante primigesta, de 28 años, sin antecedentes de interés. En ecografías prenatales se objetivó en el feto bradicardia sinusal mantenida desde la semana 28, sin repercusión hemodinámica, que persistió hasta la finalización de la gestación (semana 37+3). Al nacimiento se realizaron electrocardiogramas seriados que mostraron alteraciones en la repolarización con alargamiento del intervalo QT corregido. Se realizó estudio genético que confirmó síndrome de QT largo tipo 1 y se inició tratamiento oral con beta-bloqueantes, con buena respuesta. Conclusiones: El síndrome de QT largo suele diagnosticarse posnatalmente. Es importante conocer sus características clínicas prenatales para poder establecer un diagnóstico precoz y minimizar así el riesgo de muerte súbita de estos pacientes.

Resumo O objetivo do trabalho consiste em avaliar o desempenho de serviços de atenção primária à saúde (APS) do estado de São Paulo para prevenção, detecção e assistência à deficiência. Realizou-se uma pesquisa avaliativa em 2.739 serviços de saúde em 514 municípios com 128 indicadores da qualidade organizacional do instrumento QualiAB referentes à dimensão avaliativa “Atenção à deficiência em serviços de atenção primária à saúde”. Foram utilizadas medidas de desempenho e associações entre os escores de cada domínio e variáveis independentes sobre planejamento, avaliação em saúde e rede de apoio, por meio de regressão linear múltipla. O percentual de desempenho para a dimensão foi de 61,6%, para o domínio estrutura (insumos e recursos humanos), 73,6%, para qualificação da atenção ao pré-natal, 68,7%, qualificação da atenção à saúde da criança, 56,1%, prevenção de incapacidades relacionadas a condições crônicas, 55,8%, e atenção à pessoa com deficiência e ao cuidador, 53,9%. Houve associação significativa com variáveis relacionadas ao tipo de serviço e de participação em avaliações de serviços. Os serviços de APS ainda realizam ações incipientes para prevenção, vigilância e diagnóstico das deficiências, assim como para a atenção integral a pessoas com deficiência.

Abstract The objective of this study was to assess the performance of primary health care (PHC) services for disability prevention, detection and assistance in the state of São Paulo. The study included 2739 health services, from 514 municipalities. 128 organizational quality indicators of the QualiAB instrument referring to the evaluative dimension “Attention to disability in primary health care services”. The association of health care performance score of each domain with independent variables, health assessment, and support network were tested using of multiple linear regression. The performance percentage was 61.6% for all domains, 73.6% for structure (inputs and human resources), 68.7% for qualification of prenatal care, 56.1% for qualification of child health care, 55.8% for prevention of disabilities related to chronic conditions, and 53.9% for attention to people with disabilities and caregivers. There was a significant association with variables related to the type of service and participation in service evaluations. PHC services still perform incipient actions for the prevention, surveillance and diagnosis of disabilities as well as for comprehensive care for people with disabilities.

Resumen Introducción: El amniocele es una hernia del saco amniótico a través de un defecto en la pared del útero, el cual puede deberse a ruptura uterina, secundario a daños preexistentes, anomalías uterinas o en un útero sin cicatrices. Caso clínico: Presentamos el caso de una paciente de 37 años, con antecedente de dos partos por cesárea, a quien en la semana 25,5 de embarazo se le diagnostica por ecografía amniocele en la pared anterior de útero contenido por la vejiga, además de signos ecográficos de acretismo placentario. La posterior realización de resonancia magnética confirma el diagnóstico. Se realiza manejo expectante con estancia continua intrahospitalaria estricta. Resolución obstétrica a las 34 semanas por cesárea, con extracción fetal por fondo uterino sin complicaciones, con posterior realización de histerectomía con placenta in situ. Conclusiones: Este reporte de caso ilustra la importancia de la identificación temprana de esta condición por ser una complicación infrecuente, pero de grave pronóstico fetomaterno en ausencia de atención inmediata.

Abstract Introduction: Amniocele is a hernia of the amniotic sac through a defect in the uterine wall, which can be caused by uterine rupture secondary to preexisting damage, uterine anomalies, or a scarless uterus. Case report: We present a case of a 37-year-old patient with a history of two previous cesarean deliveries. At 25.5 weeks of gestation, the diagnosis of amniocele in the anterior uterine wall, contained by the bladder, along with ultrasound signs of placenta accreta, was confirmed through ultrasound. Subsequent magnetic resonance imaging further confirmed the diagnosis. Expectant management with strict continuous intrahospital stay was implemented. Obstetric resolution was achieved at 34 weeks through cesarean delivery, with uncomplicated fetal extraction through the uterine fundus. Subsequently, a hysterectomy was performed with the placenta left in situ. Conclusions: This case report illustrates the importance of early identification of this condition due to its infrequent but serious feto-maternal prognosis in the absence of immediate attention.

Resumen Introducción: Las malformaciones del desarrollo cortical se deben a alteraciones en la migración del neuroblasto durante la formación de la corteza cerebral. Se desconoce su frecuencia en embarazos monocoriales. Objetivo: Reportar el caso de un embarazo monocorial con diagnóstico de malformación del desarrollo cortical en uno de los fetos y revisar la literatura referente a su diagnóstico y pronóstico. Método: Mujer de 19 años, embarazo monocorial biamniótico de 26 semanas, que acudió con estudio ecográfico y resonancia fetal que evidenció en uno de los fetos asimetría de los hemisferios cerebrales, hipoplasia de la cisura de Silvio izquierda con simplificación del patrón giral por focos de paquigiria y polimicrogiria, con confirmación posnatal de alteración en la migración neuronal asociada a hipoplasia vermiana. Resultados: Se encontraron en la literatura tres casos de embarazo múltiple monocorial con trastorno de la migración neuronal con recién nacidos vivos. Los hallazgos más comunes fueron microcefalia, lisencefalia e hipoplasia cerebelosa. Conclusiones: El diagnóstico prenatal del trastorno de la migración neuronal se realiza con ecografía y resonancia fetal. La más frecuente es la alteración de la migración neuronal tipo II. El pronóstico depende del tipo de alteración; sin embargo, la mayoría de los casos presentan trastornos epileptiformes con alteraciones del neurodesarrollo.

Abstract Introduction: Malformations of cortical development are the result from alterations in the neuroblast migration during the cerebral cortex formation. It’s frequency in monochorial multiple pregnancies remains unknown. Objective: To report a case of monochorial multiple pregnancy with diagnosis of malformation of the cortical development in one of the fetuses. In addition, to review the literature regarding the diagnosis and prognosis of this entity. Method: A 19-year-old female with a monochorial diamniotic pregnancy of 26 weeks’ gestation, arrived with an ultrasound anatomy scan visit, and fetal magnetic resonance imaging, we detected asymmetry in the cerebral hemispheres one of the fetuses, hypoplasia of the left sulcus of Sylvius with simplification of the gyrus pattern due to clusters of pachygyria and polymicrogyria. Those findings were confirmed afterbirth, with a definite diagnosis of neuronal migration disorder associated with vermian hypoplasia. Results: Three cases of monochorial pregnancy with neuronal migration disorder with live newborn, common findings like microcephaly, lissencephaly and vermian hypoplasia. Conclusions: Prenatal diagnosis with neuronal migration disorder is done via ultrasound and magnetic resonance imaging. Neuronal migration disorders type II are the most common of them. Prognosis depends on the type of disorder; however, most patients have epileptiform activity and neurodevelopment impairment.

Abstract Congenital diaphragmatic hernia (CDH) is one of the most severe birth defects, with extremely high neonatal mortality and morbidity. The average gestational age for its diagnosis is 22-24 weeks, but in our clinical case, the echographic signs suggestive of CDH were not present at that gestational age. It is therefore important to value the fetal morphological study in the 3rd trimester ultrasound to detect malformations of late manifestation, such as this one. Ultrasound is crucial for prenatal diagnosis, in order to allow adequate surveillance and planning of delivery in a terciary hospital.

Resumo A Hérnia Diafragmática Congénita (HDC) é um dos defeitos congénitos de maior gravidade, estando associado a elevada morbilidade e mortalidade neonatal. Esta anomalia congénita é habitualmente diagnosticada às 22-24 semanas, contudo, no presente caso os sinais ecográficos sugestivos desta patologia não se encontravam presentes nessa idade gestacional. Deste modo, é importante avaliar a morfologia fetal no 3.º trimestre, de forma a detectar anomalias de possível manifestação tardia. A ecografia é crucial para o diagnóstico pré-natal da HDC, permitindo uma vigilância adequada e a referenciação in utero para um centro terciário.

Abstract The Stickler syndrome (SS) is a group of hereditary conditions affecting connective tissue, characterized by orofacial, ocular, skeletal and hearing disabilities. Current literature lacks a detailed prenatal phenotype. A 33-year-old, healthy woman without relevant family history, presented on second trimester ultrasound a fetus with increased nuchal fold, macrophtalmia and micrognathia. The amniocenteses results (PCR to exclude trisomies and arrayCGH) were normal. Subsequent ultrasounds revealed craniofacial edema, micrognathia, flat midface and prominent eyeballs and lips. SS suspicion was raised. Postnatal examination revealed craniofacial dysmorphia, bilateral exophthalmos, retrognathism, glossoptosis and posterior cleft palate with COL11A1 gene deletion, confirming type-2 SS.

Resumo A síndrome de Stickler (SS) é um grupo de doenças hereditárias que afeta o tecido conjuntivo e se caracteriza por anomalias orofaciais, oculares, esqueléticas e auditivas. A literatura atual carece de um fenótipo pré-natal detalhado. Grávida de 33 anos, caucasiana, saudável, sem história familiar relevante. Na ecografia do segundo trimestre foi detetado no feto prega da nuca aumentada, macroftalmia e micrognatia. Os resultados do PCR para exclusão de trissomias e arrrayCGH decorrentes da amniocentese realizada foram normais. Nas ecografias subsequentes o feto apresentava edema craniofacial, micrognatia, globos oculares e lábios proeminentes. A suspeita de SS foi levantada. No exame pós-natal foi evidente a presença de dismorfia craniofacial, exoftalmia bilateral, retrognatismo, glossoptose e fenda do palato. Uma deleção do gene COL11A1, confirmou o SS tipo 2.

Abstract Introduction. Metabolic bone disease of premature infants is a rare complication characterized by a lower mineral content in bone tissue. Objective. To establish the incidence of metabolic bone disease in premature infants and to determine associated risk factors. Materials and method. We conducted a descriptive prospective cohort study for one year in all newborns under 32 gestational weeks, or 1,500 g, at the Hospital Universitario de Santander to determine the incidence of metabolic bone disease. We collected demographic data and prenatal histories of the selected patients, and later, we measured serum alkaline phosphatase and serum phosphorus at the third week of birth, having as reference values for diagnosis less than 5.6 mg/dl for the first one and more than 500 UI/L for the second one. We applied statistical tools for data analysis, such as average proportions, dispersion, distribution and association measures, and binomial regression. Results. From a total of 58 patients, 7 had a diagnosis of metabolic bone disease, with an incidence of 12%. The weight was reported as an independent variable for the development of the disease, being significant in children under 1,160 g, as well as prolonged parenteral nutrition for more than 24 days. When performing the multivariate analysis, low weight and short time of parenteral nutrition appeared as risk factors; in the same way, maternal age below 22 years is associated with a higher relative risk, even more than a newborn weight inferior to 1,160 g. Conclusion. Establishing an early intervention in patients with metabolic bone disease enhancing risk factors, such as low weight and prolonged parenteral nutrition, is critical to prevent severe complications.

Resumen Introducción. La enfermedad metabólica ósea de neonatos prematuros es una complicación poco común que se caracteriza por una disminución del contenido mineral en el hueso. Objetivo. Establecer la incidencia de la enfermedad metabólica ósea en neonatos prematuros y los factores de riesgo asociados. Materiales y métodos. Durante un año, se realizó un estudio prospectivo de cohorte, descriptivo, con todos los neonatos nacidos con menos de 32 semanas de gestación o un peso menor de 1.500 g en el Hospital Universitario de Santander. Se recolectaron datos demográficos y antecedentes prenatales de los pacientes seleccionados. A la tercera semana de nacimiento, se midieron la fosfatasa alcalina y el fósforo sérico, tomando como valores de referencia diagnóstica aquellos inferiores a 5,6 mg/dl para el primero y aquellos mayores de 500 UI/L para la segunda. Para el análisis de la información, se emplearon herramientas estadísticas, como proporciones de promedios, medidas de dispersión, distribución y asociación, y regresión binomial. Resultados. De un total de 58 pacientes, 7 tuvieron diagnóstico de enfermedad metabólica ósea, con una incidencia del 12 %. De las variables estudiadas, el peso se reportó como una variable independiente para el desarrollo de la enfermedad, significativa en aquellos neonatos con peso menor de 1.160 g, al igual que la nutrición parenteral prolongada por más de 24 días. Al hacer el análisis multivariado, La edad materna menor de 22 años representó un riesgo relativo mayor, en comparación con un peso inferior a 1.160 g. Conclusión. Se estableció la importancia de una intervención temprana en pacientes con factores de riesgo para enfermedad metabólica ósea, como bajo peso (menor de 1.160 g) y nutrición parenteral prolongada (mayor de 24 días), con el fin de prevenir complicaciones graves.

RESUMEN Introducción: la detección y la notificación de las pacientes con morbilidad materna extremadamente grave deben aceptarse como una importante herramienta complementaria a los estudios de mortalidad materna. Objetivo: caracterizar a las pacientes con morbilidad materna extremadamente grave en la Provincia de Villa Clara durante el período del año 2017 al 2021. Métodos: se realizó un estudio de tipo transversal en Hospital Universitario Gineco-obstétrico Provincial “Mariana Grajales” y el Hospital Provincial Clínico Quirúrgico Universitario “Arnaldo Milián Castro”. Se trabajó con toda la población, definida por las pacientes con diagnóstico de morbilidad materna extremadamente grave en el contexto mencionado. Los datos necesarios para el estudio se obtuvieron a través de una revisión documental que incluyó el formulario validado a nivel nacional y las historias clínicas individuales de las pacientes estudiadas. Resultados: predominaron las mujeres con antecedentes patológicos personales de hipertensión arterial (49,4%), con parto distócico (53,4%), captadas antes de las 12 semanas (79,3%), con más de 15 controles prenatales (51,1%) y con peso adecuado (66,7%). El 54% se diagnosticó después del parto, el 36,2% por complicaciones de enfermedad existente y el 20,1% por complicaciones hemorrágicas, con predominio de manejo instaurado por intervención quirúrgica en un 53,4%. El 3,4% de las pacientes fallecieron. Conclusiones: predominaron las pacientes con antecedentes patológicos personales de hipertensión arterial, que enfermaron durante el puerperio por complicaciones de enfermedades existentes y hemorragia. El requerimiento más frecuente fue la intervención quirúrgica. La Provincia de Villa Clara se mantiene por debajo del estándar considerado menor de 4% en la mortalidad materna.

ABSTRACT Introduction: the detection and notification of patients with extremely severe maternal morbidity should be accepted as an important complementary tool to maternal mortality studies. Objective: to characterize patients with extremely severe maternal morbidity in the Province of Villa Clara during the period from 2017 to 2021. Methods: a cross-sectional study was carried out at the “Mariana Grajales” Provincial Gynecological-Obstetric University Hospital and the “Arnaldo Milián Castro” Provincial Clinical Surgical University Hospital. We worked with the entire population, defined by patients with a diagnosis of extremely severe maternal morbidity in the aforementioned context. The data necessary for the study was obtained through a documentary review that included the nationally validated form and the individual medical records of the patients studied. Results: predominated were women with a personal pathological history of arterial hypertension (49.4%), with dystocic birth (53.4%), captured before 12 weeks (79.3%), with more than 15 prenatal controls (51.1%) and with adequate weight (66.7%). 54% were diagnosed after delivery, 36.2% due to complications of existing disease and 20.1% due to hemorrhagic complications, with a predominance of management established by surgical intervention in 53.4%. 3.4% of the patients died. Conclusions: patients with a personal pathological history of arterial hypertension predominated, who became ill during the postpartum period due to complications of existing diseases and hemorrhage. The most frequent requirement was surgical intervention. The Province of Villa Clara remains below the standard considered less than 4% in maternal mortality.

ABSTRACT Foundation: Prenatal detection of hemoglobinopathies in Cuba is performed on all pregnant women in Primary Health Care, through hemoglobin electrophoresis to identify high-risk couples. The program provides genetic counseling, molecular prenatal diagnosis and selective interruptions of affected fetuses, at the request of couples. Objective: Determine the type and frequency of hemoglobinopathies in Cuban pregnant women. Method: A descriptive, retrospective and cross-sectional study was carried out to determine the type of hemoglobinopathies in 1,342,917 pregnant women recruited over a period of ten years. The research method was hemoglobin electrophoresis in agarose gels at alkaline pH. Confirmation by electrophoresis of hemoglobin in agarose gel at acidic pH, both methods using the Hydrasys 2 equipment. Results: The overall frequency of pregnant women with hemoglobinopathies was 3.5%. Hemoglobinopathies were detected in 47,465 women; 38,698 with heterozygous S variant, 8,706 hemoglobin C variants and 158 other variants. 44,283 husbands with hemoglobinopathies were detected, 3,099 high-risk couples were detected, and 2,689 molecular prenatal diagnoses were performed. 522 affected fetuses were confirmed and 382 couples requested termination of pregnancy. The program reached 99.24% coverage in the country. Conclusions: The detection of hemoglobinopathies in pregnant women residing in Cuba allowed us to know the type of hemoglobinopathy and the frequency of abnormal hemoglobins and new variants, hence the interest in continuing the research program to prevent the appearance of severe forms of the disease.

RESUMEN Fundamento: La detección prenatal de hemoglobinopatías en Cuba se realiza a todas las gestantes en la atención Primaria de Salud, a través de la electroforesis de hemoglobina para identificar parejas de alto riesgo. El programa brinda asesoramiento genético, diagnóstico prenatal molecular e interrupciones selectivas de fetos afectados, a solicitud de las parejas. Objetivo: Determinar el tipo y frecuencia de hemoglobinopatías en gestantes cubanas. Método: Se realizó un estudio descriptivo, retrospectivo y de corte transversal para determinar el tipo de hemoglobinopatías en 1 342 917 gestantes captadas en un periodo de diez años. El método de pesquisa fue la electroforesis de hemoglobina en geles de agarosa a pH alcalino. La confirmación por electroforesis de hemoglobina en gel de agarosa a pH ácido, ambos métodos mediante el equipo Hydrasys 2. Resultados: La frecuencia global de gestantes con hemoglobinopatías fue de 3,5 %. Se detectó hemoglobinopatías en 47 465 mujeres; 38 698 con variante S heterocigoto, 8 706 variantes de hemoglobina C y 158 de otras variantes. Se detectaron 44 283 esposos con hemoglobinopatías, 3 099 parejas de alto riesgo y se realizaron 2 689 diagnósticos prenatales moleculares. Se confirmaron 522 fetos afectados y 382 parejas solicitaron la interrupción del embarazo. El programa alcanzó 99,24 % de cobertura en el país. Conclusiones: La detección de las hemoglobinopatías en gestantes residentes en Cuba, permitió conocer el tipo de hemoglobinopatía y la frecuencia de hemoglobinas anormales y nuevas variantes, de ahí el interés de continuar el programa de pesquisa para prevenir la aparición de formas graves de la enfermedad.

RESUMEN Objetivos: Determinar los diagnósticos psiquiátricos y describir características clínicas, el riesgo biopsicosocial y los tratamientos de las pacientes hospitalizadas en el servicio de alto riesgo obstétrico para las que se realizó una interconsulta con psiquiatría. Métodos: Estudio observacional descriptivo en el que se incluyó a las pacientes del servicio de alto riesgo obstétrico de una institución de alta complejidad de Medellín para las que se interconsultó por psiquiatría de enlace entre 2013 y 2017. Las principales variables de interés fueron los diagnósticos y tratamientos tanto psiquiátricos como gineco obstétricos, además de los factores de riesgo obstétricos y psicosociales. Resultados: Se cribaron en total 361 historias clínicas, y 248 pacientes cumplían los criterios de inclusión. El diagnóstico psiquiátrico principal más prevalente fue trastorno depresivo mayor (29%), seguido por el trastorno de adaptación (21,8%) y los trastornos de ansiedad (12,5%); los fármacos más prescritos por psiquiatría fueron antidepresivos ISRS (24,2%), trazodona (6,8%) y benzodiacepinas (5,2%). El diagnóstico obstétrico principal más común fue el parto espontáneo (46,4%) y los diagnósticos obstétricos secundarios que predominaron fueron trastorno hipertensivo asociado con el embarazo (10,4%), diabetes gestacional (9,2%) y abortos recurrentes (6,4%). El 71,8% de las pacientes tenían un riesgo biopsicosocial alto. Conclusiones: Los principales diagnósticos psiquiátricos fueron trastorno depresivo mayor, trastorno de adaptación y trastornos de ansiedad, lo que implica la importancia del oportuno reconocimiento en la evaluación prenatal de los síntomas de estas entidades, conjuntamente con los factores de riesgo obstétrico y social. La intervención psiquiátrica es necesaria considerando las implicaciones negativas que tiene el alto riesgo tanto para la madre como paraelniño.

ABSTRACT Objective To determine the psychiatric diagnoses and treatments of patients admitted to the high-risk obstetric service who underwent a consultation with a liaison psychiatrist. Methods: A descriptive observational study that included pregnant women from the high-risk obstetric service of a highly specialised clinic in Medellín, who had a liaison psychiatry consultation between 2013 and 2017. The main variables of interest were psychiatric and obstetric diagnoses and treatments, in addition to biopsychosocial risk factors. Results: A total of 361 medical records were screened, with 248 patients meeting the inclusion criteria. The main prevailing psychiatric diagnosis was major depressive disorder (29%), followed by adaptive disorder (21.8%) and anxiety disorders (12.5%). The pharmacologic treatments most used by the psychiatry service were SSRI antidepressants (24.2%), trazodone (6.8%) and benzodiazepines (5.2%). The most common primary obstetric diagnosis was spontaneous delivery (46.4%), and the predominant secondary obstetric diagnoses were hypertensive disorder associated with pregnancy (10.4%), gestational diabetes (9.2%) and recurrent abortions (6.4%). Overall, 71.8% of the patients had a high biopsychosocial risk. Conclusions: The studied population's primary psychiatric disorders were major depressive disorder, adjustment disorder and anxiety disorders, which implies the importance of timely recognition of the symptoms of these perinatal mental pathologies, together with obstetric and social risks, in the prenatal consultation. Psychiatric intervention should be encouraged considering the negative implications of high biopsychosocial risk in both mothers and children.

Resumo Introdução: O síndroma de Bardet-Biedl (SBB) é uma doença multissistémica rara, de transmissão predominantemente autossómica recessiva, genética e clinicamente heterogénea. A sua prevalência na Europa varia entre 1:125.000 e 1:175.000, afetando de igual modo ambos os sexos. Este síndroma define-se por obesidade, polidactilia, anomalias genitourinárias, distrofia retiniana e dificuldades cognitivas, que se associam de forma variável e pode incluir um amplo espectro de outras manifestações menos prevalentes. O diagnóstico da SBB é clínico, sendo confirmado por análise molecular, o que permite o aconselhamento genético dos restantes membros da família e a realização do diagnóstico pré-natal. Atualmente não existe tratamento curativo, mas o diagnóstico precoce é importante para orientar o acompanhamento multidisciplinar. O médico de família, pela sua proximidade com o doente e seguimento longitudinal, poderá identificar sinais de alarme relativos ao diagnóstico e à identificação de complicações da doença, além de poder ajudar a mitigar impactos psicossociais deletérios. Descrição do caso: Utente do sexo masculino, quatro anos de idade, raça caucasiana, natural de Lisboa, primeiro filho de uma fratria de três. A gravidez foi vigiada pelo seu médico de família, tendo, por alterações na ecografia morfológica - rins poliquísticos e polidactilia - iniciado seguimento na consulta de genética médica, onde se estabeleceu o diagnóstico de SBB tipo 4. Nasceu por parto eutócico de uma gestação de termo sem outras intercorrências. Foi referenciado às consultas de pediatria, genética, nefrologia, oftalmologia, otorrinolaringologia, cirurgia pediátrica plástica e cardiologia pediátrica. Com cerca de um ano de idade foi-lhe diagnosticada miopia. Aos três anos foi submetido a desarticulação de dedos supranumerários. Presentemente mantém vigilância na consulta de saúde infantil da USF e acompanhamento nutricional, apresentando progressão estaturo-ponderal adequada. Comentário: O objetivo deste trabalho é relatar um caso de SBB e identificar o papel do médico de família na sinalização e acompanhamento da criança com doença genética rara.

Abstract Introduction: Bardet-Biedl syndrome (BBS) is a rare multisystem disorder, predominantly of autosomal recessive transmission, with genetic and clinical heterogeneity. Prevalence in Europe varies from 1:125,000 to 1:175,000, equally affecting both sexes. BBS is defined by a variable combination of obesity, polydactyly, genitourinary anomalies, retinal dystrophy, cognitive impairment, and other less prevalent manifestations. The diagnosis of BBS is clinical, confirmed by molecular analysis. This allows for genetic counseling of families and the possibility of prenatal diagnosis. Currently, there is no curative treatment for BBS, being early diagnosis is important to plan a multidisciplinary follow-up. Family physicians, owing to their closeness with the patient and longitudinal follow-up, may identify red flags leading both to early diagnosis and early detection of complications, and to detect and mitigate any psychosocial mishaps. Case description: Male, Caucasian, four years old, born in Lisbon, first of three children. The pregnancy was initially followed by the general practitioner. Due to changes in the routine morphological ultrasound - polycystic kidneys and polydactyly - a referral was made to a consultation of medical genetics, where the genetic study was carried out to establish the diagnosis of BBS type 4. He was born by eutocic delivery, at the end of a full-term gestation, without complications. He was referred to consultations in pediatrics, genetics, nephrology, ophthalmology, otorhinolaryngology, pediatric plastic surgery, and pediatric cardiology. At about one year of age, he was diagnosed with myopia. At the age of three, he underwent the first disarticulation of the supernumerary fingers and toes. The child keeps follow-up at the USF consultation and nutritional monitoring, so far showing adequate height-weight progression. Comment: The objective of this case report is to describe a case of BBS and to identify the role of the family physician in the referral and follow-up of a child with a rare genetic disorder.

ABSTRACT The guide for prenatal care is the regulatory mark of obstetrics norms for the control and care of pregnant women, with emphasis on those who have the RhD negative blood group. Alloimmunization by anti-D is the most frequent and serious cause of hemolytic disease of the newborn. For an early diagnosis of the pregnant woman with said blood group, it is necessary to determine the red blood cell antibodies involved. This communication highlights the role of the immunohematology laboratory in the follow-up of pregnant woman with RhD negative blood type.

RESUMEN La guía para la atención prenatal es el marco regulatorio de las normas de obstetricia para el control y cuidado de las gestantes, con énfasis en aquellas que poseen el grupo sanguíneo RhD negativo. La aloinmunización por anti-D es la causa más frecuente y grave de la enfermedad hemolítica del recién nacido. Para un diagnóstico temprano de la embarazada con dicho grupo sanguíneo, resulta necesario determinar los anticuerpos antieritrocitarios involucrados. En la presente comunicación se resalta la función del laboratorio de inmunohematología en el seguimiento de la gestante con grupo de sangre RhD negativo.