Síndrome de Bertolotti. Dolor lumbar en una adolescente / Bertolotti syndrome. Back pain in a teenager

El síndrome de Bertolotti, también llamado megaapófisis transversa, es una anomalía congénita que consiste en vértebras transicionales a nivel lumbosacro, por lo que la última vértebra lumbar L5 se “sacraliza”. Es una de las causas de dolor lumbar crónico, alcanzando el 20% en menores de 30 años, siendo escasos los casos reportados en niños. Se presenta una niña de 14 años con dolor lumbar de 2 meses de evolución con escasa respuesta al tratamiento sintomático. En la radiografía de columna anteroposterior se observa una megaapófisis transversa en L5. La paciente se mantiene en seguimiento por Traumatología con tratamiento analgésico y fisioterápico. (AU)

Bertolotti syndrome, also called transverse megapophysis, is a congenital anomaly consisting of transitional vertebrae at the lumbosacral level, whereby the last L5 lumbar vertebra becomes “sacralized”. It is one of the causes of chronic low back pain, reaching 20% in those under 30 years of age, with few cases reported in children. A 14-year-old girl is presented with low back pain for 2 months with little response to symptomatic treatment. Complementary tests were requested, finding a transverse megapophysis in L5 in the column X-ray. The patient remains under follow-up by traumatology with analgesic and physiotherapy treatment. (AU)

El aborto eugenésico: entre el diagnóstico prenatal y el consentimiento desinformado / Eugenic abortion: between prenatal diagnosis and uninformed consent

El denominado aborto “eugenésico” tiene un extraordinario matiz diferencial frente a las otras moda lidades de aborto legalmente establecidas, que se concreta en el modo en que llega a formarse la decisión de la mujer, que no es previa, sino consecuencia de una información médica recibida sobre el feto; decisión, además, en la que late una clara componente ‘discriminatoria’, puesto que el aborto se produce exclusiva mente por la discapacidad del feto. Esa singularidad exige prestar atención al contexto en que se plantean las decisiones eugenésicas, porque en ellas inciden tres elementos fundamentales que, según se planteen, pueden conducir o no al aborto: en primer lugar, la oportunidad de realizar determinadas pruebas pre natales sin existir factores de riesgo. En segundo lugar, la enorme responsabilidad de los profesionales sanitarios a la hora de informar a los padres sobre el resultado de una prueba prenatal. En tercer lugar, el punto de vista de los futuros padres, que deberían evitar una concepción eugenésica de la paternidad/ maternidad, siendo conscientes de que lo que se está desarrollando en el útero de la mujer es su hijo o hija, no un embrión genérico afectado por anomalías; y que un hijo o hija es una realidad personal, más allá de sus capacidades. El artículo aborda estas tres cuestiones, que convierten al aborto eugenésico en una práctica discriminatoria y evitable, puesto que no se trata de impedir la decisión abortiva de la mujer, sino de refrendar su decisión primaria de continuar con el embarazo a partir de una visión positiva y no eugenésica de la discapacidad (AU)

The so-called “eugenic” abortion has an extraordinary differential nuance compared to the other le gally established modalities of abortion, which is specified in the way the woman’s decision is formed, which is not prior, but a consequence of medical information received about the foetus; a decision, more over, in which there is a clear “discriminatory” component, since the abortion is produced exclusively because of the disability of the foetus. This uniqueness requires attention to the context in which eugenic decisions are made, because they involve three fundamental elements which, depending on how they are made, may or may not lead to abortion: firstly, the opportunity to carry out certain prenatal tests in the absence of risk factors. Secondly, the enormous responsibility of health professionals in informing parents about the results of a prenatal test. Thirdly, the point of view of future parents, who should avoid a eu genic conception of parenthood, being aware that what is developing in the woman’s womb is their son or daughter, not a generic embryo affected by anomalies; and that a son or daughter is a personal reality, beyond his o her capabilities. The paper addresses these three issues, which make eugenic abortion a dis criminatory and avoidable practice, since the aim is not to prevent the woman’s decision to abort, but to endorse her primary decision to continue with the pregnancy on the basis of a positive, non-eugenic view of disability (AU)

Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases.

BACKGROUND: Whole-exome sequencing (WES) significantly improves the diagnosis of the etiology of fetal structural anomalies. This study aims to evaluate the diagnostic value of prenatal WES and to investigate the pathogenic variants in structurally abnormal fetuses. METHODS: We recruited 144 fetuses with structural anomalies between 14 and 2020 and 15 December 2021 in the study. Genetic screening was performed by WES combined with karyotyping and chromosomal microarray analysis. The molecular diagnostic yield of prenatal WES for each type of fetal structural anomaly and the identified pathogenic genes and mutations were reported. RESULTS: In this study, we retrospectively analyzed the clinical and genetic data of 145 structurally anomalous fetuses. These cases were classified into 9 phenotypic classes based on antenatal ultrasound findings. Thirty-eight pathogenic variants in 24 genes were identified in 35 of the 145 cases, including 14 novel variants in 13 genes (EP300, MYH3, TSC2, MMP9, CPLANE1, INVS, COL1A1, EYA1, TTC21B, MKS1, COL11A2, PDHA1 and L1CAM). Five additional pathogenic variants were classified as incidental findings. Our study showed that the overall diagnosis rate of WES was 28.1% (27/96) in the parent-fetus trio cases and 16.3% (8/49) in the proband-only cases. Fetuses with musculoskeletal anomalies had the highest diagnostic yield (51.4%, 19/37). In addition, FGFR3 and COL1A1 were the most common pathogenic genes. CONCLUSIONS: Our work expands the mutation spectrum of the genes associated with fetal structural anomalies and provides valuable information for future parental genetic counselling and pregnancy management of the structurally anomalous fetuses.

Malformaciones müllerianas: actualización y revisión a propósito de casos clínicos, 2022 / Müllerian malformations: update and review of clinical cases, 2022

Las malformaciones müllerianas (MM) son un grupo de anomalías estructurales originadas por fallas de desarrollo de los conductos paramesonéfricos o de Müller durante las primeras 16 semanas de gestación. Un oportuno diagnóstico y una correcta clasificación permiten ofrecer el mejor manejo y diferenciar aquellas pacientes que requieren tratamiento quirúrgico. Se realizó una revisión de la literatura sobre MM en las bases de datos Epistemonikos, SciELO, Cochrane y PubMed. Se rescataron todas las pacientes ingresadas con diagnóstico de MM. En el año 2021, la American Society of Reproductive Medicine publicó un consenso en el que se estandarizó la nomenclatura, se amplió el espectro y se simplificó la clasificación. La clínica es variada, e incluye pacientes asintomáticas cuyo diagnóstico es un hallazgo por imágenes. Los mejores estudios imagenológicos son la resonancia magnética (RM) y la ultrasonografía 3D, dejando la histeroscopia y la laparoscopia (método de referencia) como procedimiento diagnóstico-terapéutico. Se presentan casos clínicos desarrollados durante el primer trimestre de 2022. Recomendamos la utilización sistemática de la RM para el diagnóstico de anomalías complejas u obstructivas del aparato genital. El tratamiento de estas patologías debe ser realizado por ginecólogos endoscopistas expertos, e incluye tratamiento médico y quirúrgico, el cual debe ser enfocado en cada paciente dependiendo del tipo de MM y de los deseos de fertilidad.

Müllerian malformations (MM) are a group of structural anomalies caused by developmental failure of the paramesonephric or Müllerian ducts during the first 16 weeks of gestation. Timely diagnosis and classification allow us to offer the best management and to differentiate those patients who require surgical treatment. Literature review on MM in Epistemonikos, SciELO, Cochrane and PubMed databases. All patients admitted with a diagnosis of MM were rescued. In 2021, the American Society of Reproductive Medicine publishes a consensus where it standardizes the nomenclature, broadens the spectrum, and simplifies the classification. The clinical picture is varied and includes asymptomatic patients whose diagnosis is an imaging finding. The best imaging studies are magnetic resonance imaging (MRI) and 3D ultrasonography, leaving hysteroscopy and laparoscopy (gold standard) as diagnostic therapeutic. Clinical cases developed during the first trimester 2022 are presented. We recommend the routine use of MRI for the diagnosis of complex and/or obstructive anomalies of the genital tract. The treatment of these pathologies should be performed by expert endoscopic gynecologists and include medical and surgical treatment, which should be focused on each patient, depending on the type of MM and fertility desires.

La nefroprevención prenatal, un reto en la prevención primaria / Prenatal Kidney Prevention: A Challenge in Primary Care

Por su avanzado desarrollo, la ecografia constituye la prueba de imagen de elección en el diagnóstico de las malformaciones durante la etapa prenatal y, en el caso de la correspondiente al tracto genitourinario, dicha técnica no solo permite el diagnóstico de estas, sino que también ofrece información relacionada con los indicadores de mal pronóstico de la función renal. De ahí que la importancia del diagnóstico prenatal por ultrasonografía de estos defectos radica en la posibilidad de realizar acciones preventivas y educativas encaminadas a disminuir la enfermedad renal terminal en la infancia.1,2) No obstante, dichas acciones se pueden ver entorpecidas debido al desarrollo embriológico del aparato genitourinario en diferentes estadios, a la interacción de factores genéticos, epigenéticos y ambientales durante este, así como a su variada expresión fenotípica.2) De lo antes expuesto se deriva la importancia de realizar acciones preventivas de carácter proactivo, es decir, llevar a cabo acciones que superen la actitud reactiva en los individuos ante los problemas, mediante un trabajo de búsqueda capaz de identificar aquellas situaciones desfavorables que puedan incidir de forma negativa en la calidad de vida y que definan una práctica profiláctica para la reducción de los factores de riesgo.3) Este tipo de acción se facilita, en el nivel primario de salud, a través del trabajo que se realiza con los posibles factores que modifican el riesgo preconcepcional genético. Entonces, en qué situación se sugiere actuar por parte del equipo de salud en la atención primaria, con la finalidad de iniciar la nefroprevención desde la etapa prenatal y así contribuir a amortiguar la aparición de dichas anomalías o defectos capaces de afectar de forma negativa la calidad de vida postnatal al no poderse explicar solamente mediante los factores genéticos. Para comenzar se sugiere cumplimentar a cabalidad las medidas tendientes a disminuir la prematuridad y el bajo peso al nacer mediante la captación precoz y el apropiado seguimiento del embarazo; disminuir la incidencia del embarazo en adolescentes, asegurar una nutrición adecuada de la gestante, así como evitar el uso de drogas teratogénicas (alcohol, warfarina, inhibidores de la enzima de conversión, alquilantes, ácido valproico, comitoína, cocaína, etcétera) que pueden ocasionar malformaciones renales. Deberá realizarse un control cuidadoso de la presión arterial, teniendo cuidado de no usar inhibidores de la encima convertidora de angiotensina en casos de hipertensión arterial. Además, fomentar el diagnóstico y tratamiento temprano y adecuado de la infección urinaria, lo cual constituye otra medida para evitar el parto prematuro.2,4 Todo ello basado en que el recién nacido no forma nuevas nefronas y que la nefrogénesis se extiende hasta las 36 semanas de gestación, por lo tanto, los prematuros nacen con menor número de nefronas, lo cual predispone un mayor riesgo de enfermedades renales futuras y de hipertensión arterial. Asimismo, es más susceptible a infecciones, hipoxia por síndrome de dificultad respiratoria, factores que predisponen a una insuficiencia renal aguda y a lesiones renales seculares. En otro sentido, debemos continuar con la administración de ácido fólico a las potenciales gestantes, lo cual contribuye a disminuir la incidencia de defectos de cierre del tubo neural y, en consecuencia, los casos de mielomeningocele, que es la causa más frecuente de vejiga neurógena. Igualmente, el suplemento de vitamina A, cuya deficiencia ha sido implicada en la génesis de las malformaciones renales.4 Otro acápite importante resulta el diagnóstico y tratamiento de las infecciones durante la gestación, ya que pueden ser potencialmente teratogénicas u ocasionar glomerulopatías (lúes, toxoplasmosis, citomegalovirosis, retrovirosis). La infección por estreptococo grupo B deberá ser adecuadamente pesquisada y tratada eliminando una causa frecuente de sepsis neonatal y la probabilidad de insuficiencia renal aguda secundaria. El diagnóstico prenatal de la uropatía mediante la ecografía bidimensional prenatal (fundamental la ecografía estructural del tercer trimestre) conducirá a una evaluación pronóstica de la función renal y a un tratamiento temprano en caso necesario, evitando así el daño renal secundario.2,4 A modo de conclusión, se puede afirmar que la nefroprevención prenatal en la atención primaria de salud, independiente del origen multifactorial de este tipo de defecto congénito y su asociación a síndromes genéticos, se hace posible y, de esta forma, se contribuye de manera satisfactoria a modificar tanto la incidencia al nacimiento como la prevalencia de estos(AU)

Perfusão arterial reversa gemelar: revisão da literatura / Twin reverse arterial perfusion: literature review

A perfusão arterial reversa gemelar é uma anormalidade rara que pode ocorrer em gestações gemelares monocoriônicas. Consiste em uma alteração na circulação fetoplacentária, com desvio de sangue de um dos gemelares para o outro, por meio de anastomoses arterioarteriais e venovenosas na superfície placentária e anastomoses arteriovenosas em áreas de circulação placentária compartilhada. O feto bombeador pode desenvolver insuficiência cardíaca devido ao aumento do débito cardíaco, e o feto receptor, perfundido por sangue pobre em oxigênio por meio do fluxo reverso, é severamente malformado, incompatível com a vida extrauterina. Este artigo apresenta o caso de uma gestação gemelar monocoriônica diamniótica, com manejo clínico conservador. O objetivo é relatar um caso de complicação rara de gestações monozigóticas e revisar condutas para diagnóstico e manejo adequado.(AU)

Twin reverse arterial perfusion is a rare abnormality that can occur in monochorionic twin pregnancies. It consists of an alteration in the fetal-placental circulation, with blood diversion from one of the twins to the other, through arterio-arterial and veno- venous anastomosis on the placental surface and arterio-venous anastomosis in areas of shared placental circulation. The pumping fetus may develop heart failure due to increased cardiac output, and the recipient fetus, perfused by oxygen-poor blood through reverse flow, is severely malformed, incompatible with extrauterine life. This article presents the case of a monochorionic diamniotic twin pregnancy, with conservative clinical management. The objective is to report a case of rare complication of monozygotic pregnancies and review procedures for diagnosis and adequate management.(AU)

Search for a genetic cause in children with unilateral isolated microtia and congenital aural atresia.

PURPOSE: Microtia describes a spectrum of auricular malformations ranging from mild dysplasia to anotia. A vast majority of microtia patients demonstrate congenital aural atresia (CAA). Isolated microtia has a right ear predominance (58-61%) and is more common in the male sex. Isolated microtia is a multifactorial condition involving genetic and environmental causes. The aim of this study is to describe the phenotype of children with unilateral isolated microtia and CAA, and to search for a common genetic cause trough DNA analysis. METHODS: Phenotyping included a complete clinical examination. Description on the degree of auricular malformation (Weerda classification-Weerda 1988), assessment for hemifacial microsomia and age-appropriate audiometric testing were documented. Computerized tomography of the temporal bone with 3-D rendering provided a histopathological classification (HEAR classification-Declau et al. 1999). Genetic testing was carried out by single nucleotide polymorphism (SNP) microarray. RESULTS: Complete data are available for 44 children (50% was younger than 33 days at presentation; 59.1% boys; 72.7% right ear). Type III microtia was present in 28 patients. Type 2b CAA existed in 32 patients. All patients had a normal hearing at the non-affected side. Genome wide deletion duplication analysis using microarray did not reveal any pathological copy number variant (CNV) that could explain the phenotype. CONCLUSIONS: Type III microtia (peanut-shell type) in combination with a type 2b CAA was the most common phenotype, present in 23 of 44 (52.3%) patients with isolated unilateral microtia. No abnormalities could be found by copy number variant (CNV) analysis. Whole exome sequencing in a larger sample with a similar phenotype may represent a future diagnostic approach.

PRETERM DETECTION OF CONGENITAL ANOMALIES BY ULTRASOUND AND CORRELATION WITH POSSIBLE ASSOCIATED RISK FACTORS.

OBJECTIVE: The aim: This descriptive, cross-sectional study aims to determine the prevalence of congenital anomalies in the Iraqi population, the associated risk factors & to emphasize the importance of ultrasound examination during pregnancy especially in the high-risk group. PATIENTS AND METHODS: Materials and methods: Data were collected from three private ultrasound clinics in different areas in Baghdad, where many pregnant women were examined over one year and those who had abnormal fetus were questioned about any possible risk factor. RESULTS: Results: The study revealed a prevalence of (14/1000). The most common anomalies are those related to the central nervous system. Some of the patients had no risk factors, others had one or more, the most important of which was consanguinity. CONCLUSION: Conclusions: The prevalence of congenital anomaly had both geographical and temporal variations, but in general, it was increasing with time and became relatively higher in the middle and south of Iraq compared with the north. This may be related to differences in ethnic, social and demographic factors as well as environmental factors, like pollution and war residues. Ultrasound had a valuable role in screening, detection and follow-up of congenital anomalies. It is a safe, available and cost-effective examination that should be offered to every pregnant woman, especially those with high-risk pregnancies.

A Resection of a Giant Mediastinal Teratoma in a Mayer-Rokitansky-Küster-Hauser Syndrome Patient.

This is a case of a giant mediastinal teratoma occupying the entire hemithorax, resulting in a complete lung whiteout. Both diagnosis and complete surgical resection of such tumors are considered a challenge, which is what we are reporting in detail in a 24-year-old Syrian woman previously diagnosed with Mayer-Rokitansky-Küster-Hauser syndrome. Here we report the simultaneous incidence of Mayer-Rokitansky-Küster -Hauser syndrome and a mediastinal mature teratoma.

Detection of Fetal Anomalies by Remotely Directed and Interpreted Ultrasound (Teleultrasound): A Randomized Noninferiority Trial.

OBJECTIVE: To determine the accuracy and reliability of remotely directed and interpreted ultrasound (teleultrasound) as compared with standard in-person ultrasound for the detection of fetal anomalies, and to determine participants' satisfaction with teleultrasound. STUDY DESIGN: This was a single-center, randomized (1:1) noninferiority study. Individuals referred to the maternal-fetal medicine (MFM) ultrasound clinic were randomized to standard in-person ultrasound and counseling or teleultrasound and telemedicine counseling. The primary outcome was major fetal anomaly detection rate (sensitivity). All ultrasounds were performed by registered diagnostic medical sonographers and interpretations were done by a group of five MFM physicians. After teleultrasound was completed, the teleultrasound patients filled out a satisfaction survey using a Likert scale. Newborn data were obtained from the newborn record and statewide birth defect databases. RESULTS: Of 300 individuals randomized in each group, 294 were analyzed in the remotely interpreted teleultrasound group and 291 were analyzed in the in-person ultrasound group. The sensitivity of sonographic detection of 28 anomalies was 82.14% in the control group and of 20 anomalies in the telemedicine group, it was 85.0%. The observed difference in sensitivity was 0.0286, much smaller than the proposed noninferiority limit of 0.05. Specificity, negative predictive value, positive predictive value, and accuracy were more than 94% for both groups. Patient satisfaction was more than 95% on all measures, and there were no significant differences in patient satisfaction based on maternal characteristics. CONCLUSION: Teleultrasound is not inferior to standard in-person ultrasound for the detection of fetal anomalies. Teleultrasound was uniformly well received by patients, regardless of demographics. These key findings support the continued expansion of telemedicine services. KEY POINTS: · For detection of major anomalies, teleultrasound is comparable to standard ultrasound.. · Teleultrasound was well accepted by patients.. · Teleultrasound use should be expanded..

Exploring a new paradigm for the fetal anomaly ultrasound scan: Artificial intelligence in real time.

OBJECTIVE: Advances in artificial intelligence (AI) have demonstrated potential to improve medical diagnosis. We piloted the end-to-end automation of the mid-trimester screening ultrasound scan using AI-enabled tools. METHODS: A prospective method comparison study was conducted. Participants had both standard and AI-assisted US scans performed. The AI tools automated image acquisition, biometric measurement, and report production. A feedback survey captured the sonographers' perceptions of scanning. RESULTS: Twenty-three subjects were studied. The average time saving per scan was 7.62 min (34.7%) with the AI-assisted method (p < 0.0001). There was no difference in reporting time. There were no clinically significant differences in biometric measurements between the two methods. The AI tools saved a satisfactory view in 93% of the cases (four core views only), and 73% for the full 13 views, compared to 98% for both using the manual scan. Survey responses suggest that the AI tools helped sonographers to concentrate on image interpretation by removing disruptive tasks. CONCLUSION: Separating freehand scanning from image capture and measurement resulted in a faster scan and altered workflow. Removing repetitive tasks may allow more attention to be directed identifying fetal malformation. Further work is required to improve the image plane detection algorithm for use in real time.

Association of prenatal renal ultrasound abnormalities with pathogenic copy number variants in a large Chinese cohort.

OBJECTIVES: To assess the clinical utility of prenatal chromosomal microarray analysis (CMA) in fetuses with abnormal renal sonographic findings, and to evaluate the association of pathogenic or likely pathogenic copy number variants (P/LP CNVs) with different types of renal abnormality. METHODS: This was a retrospective study of fetuses at 14-36 weeks screened routinely for renal and other structural abnormalities at the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region. We retrieved and analyzed data from fetuses with abnormal renal sonographic findings, examined between January 2013 and November 2019, which underwent CMA analysis using tissue obtained from chorionic villus sampling (CVS), amniocentesis or cordocentesis. We evaluated the CMA findings according to type of renal ultrasound anomaly and according to whether renal anomalies were isolated or non-isolated. RESULTS: Ten types of renal anomaly were reported on prenatal ultrasound screening, at a mean ± SD gestational age of 24.9 ± 4.8 weeks. The anomalies were diagnosed relatively late in this series, as 64% of cases with an isolated renal anomaly underwent cordocentesis rather than CVS. Fetal pyelectasis was the most common renal ultrasound finding, affecting around one-third (34.32%, 301/877) of fetuses with a renal anomaly, but only 3.65% (n = 11) of these harbored a P/LP CNV (comprising: isolated cases, 2.37% (4/169); non-isolated cases, 5.30% (7/132)). Hyperechogenic kidney was found in 5.47% (n = 48) of fetuses with a renal anomaly, of which 39.58% (n = 19) had a P/LP CNV finding (comprising: isolated cases, 44.44% (16/36); non-isolated cases, 25.00% (3/12)), the highest diagnostic yield among the different types of renal anomaly. Renal agenesis, which accounted for 9.92% (n = 87) of all abnormal renal cases, had a CMA diagnostic yield of 12.64% (n = 11) (comprising: isolated cases, 11.54% (9/78); non-isolated cases, 22.22% (2/9); unilateral cases, 11.39% (9/79); bilateral cases, 25.00% (2/8)), while multicystic dysplastic kidney (n = 110), renal cyst (n = 34), renal dysplasia (n = 27), crossed fused renal ectopia (n = 31), hydronephrosis (n = 98), renal duplication (n = 42) and ectopic kidney (n = 99) had overall diagnostic rates of 11.82%, 11.76%, 7.41%, 6.45%, 6.12%, 4.76% and 3.03%, respectively. Compared with the combined group of CMA-negative fetuses with any other type of renal anomaly, the rate of infant being alive and well at birth was significantly higher in CMA-negative fetuses with isolated fetal pyelectasis or ectopic kidney, whereas the rate was significantly lower in fetuses with isolated renal agenesis, multicystic dysplastic kidney or severe hydronephrosis. The most common pathogenic CNV was 17q12 deletion, which accounted for 30.14% (22/73) of all positive CMA findings, with a rate of 2.51% (22/877) among fetuses with an abnormal renal finding. Fetuses with 17q12 deletion exhibited a wide range of renal phenotypes. Other P/LP CNVs in the recurrent region that were associated with prenatal renal ultrasound abnormalities included 22q11.2, Xp21.1, Xp22.3, 2q13, 16p11.2 and 1q21, which, collectively, accounted for 2.17% (19/877) of the fetuses with prenatal renal anomalies. CONCLUSIONS: In this retrospective review of CMA findings in a large cohort of fetuses with different types of renal ultrasound abnormality, the P/LP CNV detection rate varied significantly (3.03-39.58%) among the different types of kidney anomaly. Our data may help in the decision regarding whether to perform prenatal genetic testing in fetuses with renal ultrasound findings. Specifically, prenatal CMA testing should be performed in cases of hyperechogenic kidney, regardless of whether or not the anomaly is isolated, while it should be performed postnatally rather than prenatally in cases of fetal pyelectasis. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.

Epidemiological study of congenital malformations of the vertebral column in French bulldogs, English bulldogs and pugs.

BACKGROUND: Congenital vertebral body malformations (CVBMs) have retrospectively been investigated in British and American canine populations. This study prospectively evaluates occurrence, localization, type and characteristic of CVBM along the entire vertebral column in a cohort of French Bulldogs, English Bulldogs and Pug dogs from Germany. METHODS: Prospective clinical and radiological screenings for CVBM were performed in brachycephalic dogs presented for reasons unrelated to neurological problems. Neurological and orthopaedic examinations as well as radiographs in two orthogonal planes of the entire vertebral column including the tail were performed in all dogs. Cobb angle and vertebral step were determined. Associations between CVBM, tail malformation, neurological deficits and occurrence of concurrent orthopaedic diseases were investigated. RESULTS: A total of 707 VBMs were identified in the whole vertebral column of 169 of 265 brachycephalic dogs. The most common types of CVBMs were ventral wedge shape (48%), dorsal wedge shape (14%) and shortened vertebral body (14%). A new type of malformation was investigated: dorsal wedge shape vertebrae. There was significant association between severe tail malformations with CVBM. Neurological deficits were significantly associated with ventrolateral wedge shape, dorso lateral hemivertebrae, Cobb angle > 30% and vertebral step ≥1.75 mm. Orthopaedic conditions were not significantly associated with CVBM. CONCLUSION: Kyphotic Cobb angle and vertebral step are radiological findings associated with neurological deficits. We propose severe tail malformation as an easy and accurate selection factor for determining breeding dogs.

Retroperitoneal fetus in fetu in a 65-year-old man

Fetus in fetu (FIF) is a rare congenital anomaly in which a malformed fetus is incorporated within the body of its twin. It was first described in the late 18th century and has an incidence of 1:500,000 live births. In most cases, the diagnosis is made in infants or young adults. To date, the oldest patient reported in the literature was 47 years old. We describe the case of a 65-year-old patient with FIF, now the oldest reported in the literature. Our patient meets all the diagnostic criteria for FIF, including the presence of a limb in advanced formation inside the lesion. The treatment was surgical excision. FIF should be considered in the differential diagnosis of abdominal masses, typically recognized in infancy. Symptoms arise from mass effects. Surgical resection should be performed due to the potential for malignant transformation.

Reporte de malformaciones fetales diagnosticadas en comité ecográfico del Hospital Regional de Talca, entre junio 2020 y junio 2021 / Report of fetal malformations diagnosed in the ultrasound committee of the regional hospital of Talca, between june 2020 and june 2021

Introduction: Obstetric ultrasound is part of the screening to select the population at high risk of having a congenital malformation. Considering that fetal defects occur in approximately 2-4 out of every 100 live newborns, and are the cause of 35-40% of perinatal mortality in Chile, it is therefore justified to perform the second trimester ultrasound, which presents a high index prenatal screening (56%), with few false positives. Methods: A retrospective, cross-sectional and descriptive study was carried out, by reviewing 6,385 ultrasound scans, which were performed during one year (June 2020-June 2021), at the Regional Hospital of Talca, where 126 fetuses with suspected malformation were detected. Results: Of the total number of patients evaluated, a congenital malformation rate of 1.9% was detected, with cardiac malformations the most frequent, and diabetes mellitus the main risk factor. Conclusions: Antenatal ultrasound study is essential in the first and second trimesters of pregnancy, followed by a referral to an ultrasound committee, emphasizing early and interdisciplinary management. The frequencies found are similar to those reported in the international bibliography

CHIASM, the human brain albinism and achiasma MRI dataset.

We describe a collection of T1-, diffusion- and functional T2*-weighted magnetic resonance imaging data from human individuals with albinism and achiasma. This repository can be used as a test-bed to develop and validate tractography methods like diffusion-signal modeling and fiber tracking as well as to investigate the properties of the human visual system in individuals with congenital abnormalities. The MRI data is provided together with tools and files allowing for its preprocessing and analysis, along with the data derivatives such as manually curated masks and regions of interest for performing tractography.

Ultrasound findings and detection of fetal abnormalities before 11 weeks of gestation.

OBJECTIVE: To determine the proportion of major fetal structural abnormalities that can be detected before 11 gestational weeks. METHODS: We conducted a retrospective study of individual patient files at a tertiary provider of obstetric and gynecological ultrasound in Melbourne, Australia. All women who had a pre-cell-free DNA ultrasound with a crown-rump length of less than 45 mm and had one or more ultrasounds at a later gestation were included in the analysis. The primary outcome was the incidence of a fetal structural abnormality. RESULTS: A total of 3333 cases were included in the final analysis. Overall, 316 fetuses (9.5%) had a structural abnormality detected at any point throughout gestation, of which 86 were major structural abnormalities (2.6%). Sixteen fetal abnormalities were detected before 11 weeks of gestation, including 15 major abnormalities (17.4% of the major anomalies). All major fetal abnormalities detected before 11 gestational weeks were confirmed at later ultrasound examinations or the pregnancy did not continue (in four cases due to termination of pregnancy and in one case spontaneous miscarriage before first trimester morphology ultrasound). CONCLUSION: Detection of fetal abnormalities is possible before 11 weeks of gestation. Early suspicion is more likely in cases of major structural abnormalities.

Clinical, tomographic, and postmortem aspects of a rare congenital Dicephalus Monauchenos Iniodymus in a Nelore calf produced in vitro from Brazil: case report / Aspectos clínicos, tomográficos e pós-morte de um raro Dicephalus Monauchenos Iniodymus congênito em um bezerro Nelore produzido in vitro no Brasil: relato de caso

The aim of this work was to report the occurrence of dicephalus iniodymus monauchenos in a Nellore newborn. A three-days old calf, from in vitro production, with duplication of the head and a history of cesarean birth was attended. On physical examination, the dicephalus, iniodymus and monauchenos, which were almost the same size and shape, had four eyes and four ears. Computed tomography showed the presence of two skulls fused with a common occipital foramen, two nasopharynxes, oropharynxes with the presence of a cleft lip and a cleft palate in the right head, which continued in a single esophagus and a single trachea. At necropsy, the presence of duplication of the cerebrum and cerebellum was observed, with union of the parts in the region of the trapezoid body of the brainstem and continued as a single spinal cord. This study characterizes the clinical, tomographic, and necropsy findings of a dicephalus Nelore neonate.(AU)

O objetivo deste trabalho foi relatar a ocorrência de Dicephalus Iniodymus Monauchenos em um neonato da raça Nelore de produção in vitro. Foi atendida uma fêmea bovina, de três dias de idade, com duplicação das cabeças e histórico de nascimento por meio de cesariana. No exame físico, observou-se a dicefalia, Iniodymus e Monauchenos, apresentando quatro olhos e quatro orelhas. Na tomografia computadorizada, constatou-se a presença de dois crânios fundidos com um forame occipital comum, duas nasofaringes, orofaringes com presença de lábio leporino e fenda palatina na cabeça direita, que continuavam em um único esôfago e em uma única traqueia. Na necropsia, observou-se a presença de duplicação do encéfalo e cerebelo, com união das partes na região do corpo trapezoide do tronco encefálico, que continuavam como uma única medula espinhal. Este estudo caracteriza os achados clínicos, tomográficos e de necropsia de um neonato Nelore dicefálico.(AU)

Accuracy of the mid-trimester ultrasound scan in the detection of fetal congenital anomalies in a reference center in Northeastern Brazil.

OBJECTIVE: To assess the performance of a basic mid-trimester fetal ultrasound scan protocol for the diagnosis of congenital anomalies by calculating its accuracy, sensitivity, and specificity. METHODS: This longitudinal cohort study involved singleton pregnant women recruited at the mid-trimester fetal ultrasound scan through the postnatal evaluation of congenital anomalies. Pregnant women who underwent a routine mid-trimester ultrasound scan for fetal abnormalities at 20-24 weeks of gestation were enrolled in this study. After childbirth, we searched their medical records on gestational outcomes and neonatal examination records, as well as complementary medical examinations, to assess the ultrasound performance in diagnosing congenital malformations. RESULTS: We included 967 pregnant women in the study population, and prenatal ultrasound scans detected congenital abnormalities in 67 fetuses (6.9%). Among newborns, 54 (5.6%) were postnatally diagnosed with malformations. The overall sensitivity and specificity of the mid-trimester ultrasound scan for congenital malformation detection were 61.1% and 96.3%, respectively, with an accuracy of 94.3% (p < .05). CONCLUSION: The mid-trimester ultrasound scan had good accuracy in the detection of congenital malformations, although the overall sensitivity does not support it as the only screening test for anomalies throughout pregnancy.