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1.
Anat Cell Biol ; 2024 Mar 07.
Article in English | MEDLINE | ID: mdl-38449077

ABSTRACT

Transverse basilar cleft (TBC) is an extremely rare variation of the clivus or the basilar part of the occipital bone. In this report, a unilateral transverse basilar fissure was found at the clivus in a head computed tomography of an 18-year-old female patient diagnosed with hemifacial microsomia (HFM). Image analysis of this patient showed shortening of the ramus of the right mandible along with medial displacement of the right temporomandibular joint and hypoplastic right maxilla. In addition, observation of the clivus showed a cleft between the basioticum and basioccipital bones at the level of the pharyngeal tubercle on the right side. This cleft was identified as TBC. Clival variations, TBC included, attributed to HFM have never been reported. This report draws attention to the complex relationship between abnormal development of clivus and HFM syndrome, and sheds light on a possible genetic and molecular association between these two conditions.

2.
Assist Technol ; : 1-6, 2024 Mar 19.
Article in English | MEDLINE | ID: mdl-38502574

ABSTRACT

Congenital limb defects occur when a limb does not develop normally during pregnancy. The quality of each person's everyday life is significantly impacted by any of these defects and there is no concrete treatment. 3D modeling and printing, enables the creation and customization of precise virtual and/or physical models, including models of the human anatomy. These technologies provide a novel method of producing new devices with optimized design and production time, improving adaptability, and incorporating functionality. To this end, we propose a method of designing and producing 3D printed assistive devices and we also present an example of an assistive device, done in the 3D Printing Center for Health, as well as its impact on the patient's daily life. With this device, the patient became able to play the guitar and hold a knife, thus helping on these two activities.

3.
Reprod Domest Anim ; 59(1): e14501, 2024 Jan.
Article in English | MEDLINE | ID: mdl-37975255

ABSTRACT

A mobile phone app was used by 59 veterinary practitioners to collect case histories and images of 191 cattle with congenital defects distributed nationally over a 3-year period. The majority of cases were recorded during the spring calving season (57.6%) in pluriparous dairy dams. The majority of calves were recorded at birth or within the first week (66.5%) in singletons born at full-term. On the majority of farms (75.9%), this was the only congenitally deformed bovine recorded up to that point in the year and on the majority of farms, there were no congenitally deformed cattle recorded in the previous 5 years. The majority of congenital defects (83.5%) were recorded in the musculoskeletal or digestive systems. The three most commonly recorded individual defects were intestinal atresia (24.1%), schistosomus reflexus (20.4%) and ankylosis (6.8%); multiple defects were recorded in 13.1% of cases. These findings highlight the relatively high prevalence of intestinal atresia and schistosomus reflexus in calves attended by veterinary practitioners, which warrants implementation of preventive measures. The project highlights the potential benefits of veterinary-practitioner apps to detect changing trends in endemic, or the emergence of novel, congenital or other conditions.


Subject(s)
Cattle Diseases , Intestinal Atresia , Animals , Cattle , Intestinal Atresia/veterinary , Cattle Diseases/epidemiology
4.
Humanidad. med ; 23(3)dic. 2023.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1528708

ABSTRACT

El artículo expone los fundamentos teóricos que sustentan la estrategia de superación para enfermeros residentes de la especialidad de Ginecobstetricia. Se orienta a la prevención del riesgo genético con énfasis en los defectos congénitos, temática necesaria para este especialista, pero poco abordada en los planes de estudio. El actual resultado constituye una salida del proyecto de investigación: "estrategia de superación para los profesionales de Enfermería sobre la prevención del riesgo genético". Se realizó en la Facultad de Tecnología de la Salud de la Universidad de Ciencias Médicas de Camagüey, en el periodo de enero 2020 a diciembre 2022. Para la construcción de los fundamentos referidos se emplearon métodos de investigación empíricos y teóricos. El objetivo consistió en exponer elementos de una estrategia de superación para enfermeros residentes en Ginecobstetricia dirigida a la prevención del riesgo genético. Los resultados demostraron las insuficiencias que existentes.


The article exposes the theoretical foundations that support the improvement strategy of the residents of the Gynecology and Obstetrics specialty aimed at the prevention of genetic risk with emphasis on congenital defects, a necessary theme for this specialist, but insufficiently addressed in the plans of study. The current result constitutes a departure from the research project Overcoming Strategy for Nursing professionals on the prevention of genetic risk, at the Technological Faculty of the University of Medical Sciences of Camagüey from January 2020 to December 2023. For the construction of the foundations referred to, empirical and theoretical research methods were used. For this reason, the objective of this work consisted in exposing elements of an overcoming strategy aimed at residents of the Gynecology and Obstetrics specialty for the at the prevention of genetic risk. The results demonstrated the insufficiencies that existed in this regard.

5.
Birth Defects Res ; 115(20): 1923-1935, 2023 12 01.
Article in English | MEDLINE | ID: mdl-37802762

ABSTRACT

BACKGROUND: Parapagus diprosopus are conjoined twins characterized by craniofacial duplication and only one body, representing one of the rarest types of these twins. Their occurrence has been recorded in different species of vertebrates, including humans, but few cases have been studied in domestic pigs. CASE: A pair of conjoined twin pigs was studied using x-rays, computed tomography, and necropsy. The abnormalities found were compared with those of the rare swine cases presented in the literature as well as with other species, and the different etiopathogenetic possibilities were addressed. The degree of duplication of the head bones decreased caudally, as did that of the structures of the central nervous system. In the two oral cavities, there was a complete cleft palate. All the cervical vertebrae and thoracic vertebrae up to T3 were partially duplicated. The heart and great vessels were normal, as were the other thoracic and abdominal organs. CONCLUSIONS: The conjoined twin pigs of this study are a case of parapagus diprosopus tetraophthalmus triotus, presenting the same pattern of abnormalities of human diprosopus and that of other species. The scarcity of detailed studies on craniofacial duplication in pigs and the lack of a definitive explanation on the etiology and pathogenesis of conjoined twins shows the need for further research and the publication of more cases.


Subject(s)
Cleft Palate , Twins, Conjoined , Humans , Swine , Animals , Sus scrofa , Cleft Palate/pathology , Tomography, X-Ray Computed
6.
Clin Case Rep ; 11(10): e8009, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37808575

ABSTRACT

Key Clinical Message: Schistosomus reflexus (SR), an unusual congenital defect in calves, can be diagnosed grossly by exposed viscera and curved spine with hindquarters twisted up toward the head. SR is typically associated with dystocia and fetal deaths in cows. Hence, cattle breeding programs must be aware of these anomalies to avoid losses from abnormal, non-viable calves. Abstract: Schistosomus reflexus (SR) is a rare and fatal congenital malformation in bovines from autosomal recessive disorders. We report a typical case of SR in a non-viable calf after the cesarean section of a crossbred Friesian cow. It was characterized by the inversion of the spinal column and a pronounced ventral curvature causing the cranium to be positioned near the sacrum and tail, along with exposed thoracic and abdominal viscera, limb ankylosis, and tongue protrusion. The postoperative management of the cow, along with the outcome, is also described here.

7.
BMC Oral Health ; 23(1): 689, 2023 09 25.
Article in English | MEDLINE | ID: mdl-37749556

ABSTRACT

BACKGROUND: The complex presentation, associated co-morbidities and multi-disciplinary requirements dictate the requirement for in-depth knowledge in order to effectively manage patients with cleft lip and palate (CLP). We aimed to develop a validated questionnaire for cleft lip and palate knowledge assessment and to evaluate the knowledge of cleft lip and palate among a group of recently-graduated dentists. MATERIALS AND METHODS: A multiple-site, cross-sectional questionnaire-based study was conducted. The study population included recently graduated dentists involved in a dental internship program. A bespoke questionnaire was developed and validated, with internal consistency assessed using Cronbach's alpha and factor analysis performed. A 47-item prototype was distilled into a 15-item questionnaire. This was distributed to the participants with a response rate of 67% obtained. RESULTS: The overall proportion of correct responses among dental interns was moderate (73%). The best results were found in relation to CLP treatment including the effect of unfavorable surgical outcomes on speech (89.5%) and the impact of CLP on the occlusion (87.6%). The lowest rate of correct responses (26.7%) was identified in relation to the association between CLP and smoking. CONCLUSION: A validated CLP questionnaire was developed, permitting evaluation of the knowledge of cleft lip and palate and its management among recently graduated dentists. There is limited appreciation among dental interns of the risk factors for CLP as well as post-surgical complications. Given that general dentists are often the gatekeepers for the management of patients with cleft lip and palate, it is important that the findings of this survey are used to inform the curriculum and teaching of cleft lip and palate.


Subject(s)
Cleft Lip , Cleft Palate , Humans , Cleft Lip/surgery , Cross-Sectional Studies , Dentists
8.
Article in Spanish | LILACS, CUMED | ID: biblio-1536335

ABSTRACT

Introducción: Múltiples investigaciones demuestran el efecto teratogénico de la diabetes mellitus durante el embarazo, considerada causa frecuente de morbilidad fetal. Objetivo: Describir las características del producto de la concepción de mujeres con diabetes pregestacional o gestacional, atendidas en el Hospital Provincial Comandante Ciro Redondo García, de Artemisa. Métodos: Se realizó un estudio observacional, descriptivo, transversal, en la Provincia Artemisa, Cuba, en el período de febrero 2016 a febrero 2018, en 316 mujeres con diabetes mellitus durante su gestación. La información se obtuvo mediante revisión documental y entrevista, conservando los datos en hoja de cálculo Excel. Resultados: El 69,9 por ciento de las pacientes diabéticas estudiadas presentaron morbilidades en su descendencia, entre las que predominaron los defectos congénitos en 139 casos; 34 neonatos macrosómicos; 21 pretérminos; 9 con retardo del crecimiento intrauterino y 5 fallecidos antes del año de vida. La diabetes, tanto pregestacional como gestacional, se relacionó con afecciones en la descendencia; sin embargo, un control preconcepcional adecuado de la enfermedad redujo el riesgo de tener hijos afectados. Los defectos congénitos fueron la alteración más frecuente cuando la madre padecía diabetes pregestacional. Si la diabetes materna era gestacional los hijos presentaron con frecuencia macrosomía y otras anomalías asociadas. Conclusiones: Alrededor de 70 de cada 100 mujeres diabéticas presentan morbilidades en su descendencia. Si la diabetes materna no es controlada antes de la concepción, estas morbilidades en sus hijos son predominantemente defectos congénitos con posible origen disruptivo, mientras que la diabetes gestacional se relaciona más con recién nacidos macrosómicos(AU)


Introduction: Multiple investigations show the teratogenic effect of diabetes mellitus during pregnancy, being considered a frequent cause of fetal morbidity. Objective: To describe the characteristics of the offspring of women with pregestacional or gestational diabetes who received attention at the Hospital Provincial Comandante Ciro Redondo García of Artemisa. Methods: An observational, descriptive, cross-sectional and descriptive study was conducted in Artemisa Province, Cuba, in the period from February 2016 to February 2018, with 316 pregnant women with diabetes mellitus. The information was obtained through documentary review and interview; the data were kept in an Excel spreadsheet. Results: 69.9 percent of the studied diabetic patients presented morbidities in their offspring, among which congenital defects predominated, accounting for 139 cases; 34 were macrosomic neonates; 21 were preterm; 9 presented intrauterine growth retardation; and 5 died within one year of life. Diabetes, both pregestational and gestational, was associated with conditions in the offspring; however, adequate preconception control of the disease reduced the risk for having affected children. Congenital defects were the most frequent alteration when the mother had pregestational diabetes. If maternal diabetes was gestational, the offspring frequently presented macrosomia and other associated anomalies. Conclusions: About 70 out of 100 diabetic women present morbidities in their offspring. If maternal diabetes is not controlled before conception, these morbidities in their offspring are predominantly congenital defects with a possible disruptive origin, while gestational diabetes is more related to macrosomic newborns(AU)


Subject(s)
Humans , Female , Pregnancy , Congenital Abnormalities/etiology , Diabetes, Gestational/epidemiology , Diabetes Mellitus , Epidemiology, Descriptive , Cross-Sectional Studies , Observational Study
9.
Horiz. sanitario (en linea) ; 22(2): 247-253, may.-ago. 2023. tab
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1534534

ABSTRACT

Resumen Objetivo: Determinar la prevalencia de cardiopatías congénitas (CC) en un hospital de segundo nivel que ameritaron tratamiento quirúrgico. Material y métodos: Estudio descriptivo, realizado en pacientes con diagnóstico de CC en una unidad de segundo nivel de atención del Instituto Mexicano del Seguro Social (IMSS) en Puebla, México durante el periodo de 2016-2017, se incluyeron expedientes de recién nacidos (RN) a término hasta los 14 años, analizando variables sociodemográficas, tipo de CC y corto circuito, presencia de anomalías asociadas y envío a un tercer nivel de atención para tratamiento quirúrgico. La información fue recolectada y analizada mediante el programa SPSS Statistics v25. Resultados: La prevalencia hospitalaria de CC que requirieron envío a tercer nivel de atención para tratamiento quirúrgico fue 6.8% en 2016 y 6.6% en 2017, la mediana de edad fue 1 año. El 77.2% de las CC fueron acianógenas, la persistencia del conducto arterioso (PCA) fue el corto circuito más frecuente y 19.2% presentó síndrome de Down como anomalía congénita asociada. Conclusión: Obtuvimos una prevalencia similar a otras regiones de México, siendo las CC acianógenas la causa más frecuente de los tratamientos quirúrgicos. La detección y referencia oportuna mejorara la atención y calidad de vida en estos pacientes.


Abstract Objective: To determine the prevalence of congenital heart disease (CHD) in a second level hospital that required surgical treatment. Material and methods: Descriptive study carried out in patients diagnosed with CHD in a second level hospital of the Mexican Social Security Institute (IMSS) in Puebla, Mexico during the period 2016-2017. Records of full-term newborns (NB) up to 14 years of age analyzing sociodemographic variables, type of CHD and short-circuit, presence of associated anomalies, and referral to a third level hospital for surgical treatment were included. Data were collected and analyzed using the SPSS Statistics v25 program. Results: The hospital prevalence of CHD that required referral to the third level hospital for surgical treatment was 6.8% in 2016 and 6.6% in 2017; the median age was 1 year. The 77.2% of CHDs were non-cyanotic, patent ductus arteriosus (PDA) was the most common shunt, and 19.2% had Down syndrome as an associated congenital anomaly. Conclusion: We obtained a similar prevalence to other regions of Mexico, with acyanotic CHD being the most frequent cause of surgical treatments. Timely detection and referral will improve care and quality of life in these patients.

10.
Elife ; 122023 06 05.
Article in English | MEDLINE | ID: mdl-37272612

ABSTRACT

Unlike single-gene mutations leading to Mendelian conditions, common human diseases are likely to be emergent phenomena arising from multilayer, multiscale, and highly interconnected interactions. Atrial and ventricular septal defects are the most common forms of cardiac congenital anomalies in humans. Atrial septal defects (ASD) show an open communication between the left and right atria postnatally, potentially resulting in serious hemodynamic consequences if untreated. A milder form of atrial septal defect, patent foramen ovale (PFO), exists in about one-quarter of the human population, strongly associated with ischaemic stroke and migraine. The anatomic liabilities and genetic and molecular basis of atrial septal defects remain unclear. Here, we advance our previous analysis of atrial septal variation through quantitative trait locus (QTL) mapping of an advanced intercross line (AIL) established between the inbred QSi5 and 129T2/SvEms mouse strains, that show extremes of septal phenotypes. Analysis resolved 37 unique septal QTL with high overlap between QTL for distinct septal traits and PFO as a binary trait. Whole genome sequencing of parental strains and filtering identified predicted functional variants, including in known human congenital heart disease genes. Transcriptome analysis of developing septa revealed downregulation of networks involving ribosome, nucleosome, mitochondrial, and extracellular matrix biosynthesis in the 129T2/SvEms strain, potentially reflecting an essential role for growth and cellular maturation in septal development. Analysis of variant architecture across different gene features, including enhancers and promoters, provided evidence for the involvement of non-coding as well as protein-coding variants. Our study provides the first high-resolution picture of genetic complexity and network liability underlying common congenital heart disease, with relevance to human ASD and PFO.


Subject(s)
Brain Ischemia , Foramen Ovale, Patent , Heart Defects, Congenital , Stroke , Humans , Mice , Animals , Foramen Ovale, Patent/genetics , Phenotype , Gene Expression Profiling
11.
Int J Urol ; 30(10): 883-888, 2023 10.
Article in English | MEDLINE | ID: mdl-37338098

ABSTRACT

OBJECTIVE: Concerns exist regarding the effects of maternal inhalation of household products on fetal health. This study aimed to clarify the impact of maternal exposure to household products, including spray formulations, on urological anomalies in offspring up to the age of 1 year. METHODS: This study included data from 84 237 children from the Japan Environment and Children's Study, an ongoing nationwide cohort study. Using maternal self-report questionnaires, information on the use of organic solvents, waterproof sprays, insect-repellent sprays, insecticide sprays, and herbicides from implantation until the second or third trimester of pregnancy and data on urological anomalies were collected 1 year after delivery. RESULTS: Urological anomalies occurred in 799 infants. Multivariate logistic regression analysis adjusted for maternal age, pregnancy body mass index, gestational diabetes, pre-existing maternal kidney disease, and preterm birth revealed no association between maternal exposure to organic solvents and the prevalence of offspring urological anomalies. Nevertheless, we observed significant associations between waterproof spray use during pregnancy and urological anomalies in boys (odds ratio [OR]: 1.28, 95% confidence interval [CI]: 1.03-1.59) and between the use of insecticide spray during pregnancy and urological anomalies in girls (OR: 1.48, 95% CI: 0.98-2.22). Sub-analysis revealed significant associations between waterproof spray use during pregnancy and vesicoureteral reflux in boys (OR: 2.14, 95% CI: 1.02-4.49) and between the use of insecticide spray during pregnancy and hydronephrosis in girls (OR: 2.23, 95% CI: 1.11-4.47). CONCLUSION: Spray formulation use during pregnancy might increase the risk of urological anomalies in the offspring.


Subject(s)
Insecticides , Premature Birth , Male , Pregnancy , Infant , Female , Humans , Infant, Newborn , Child , Cohort Studies , Japan/epidemiology , Solvents
12.
Clin Case Rep ; 11(5): e7350, 2023 May.
Article in English | MEDLINE | ID: mdl-37205152

ABSTRACT

Key Clinical Message: Children with Pierre Robin syndrome (PRS) often have trouble breathing and eating as soon as they are born. If conservative therapy fails to alleviate airway obstruction, surgical surgery may be considered. Patients with PRS require multidisciplinary approaches for treatment. Abstract: Pierre Robin syndrome is a common craniofacial abnormality that causes glossoptosis and blockage of the upper airway. This renders it difficult to feed, which leads to severe malnutrition. This condition is also often marked by an absence of a soft palate. We mention a newborn with Pierre Robin syndrome with the absence of a soft palate and pneumonia complications, whose impending respiratory failure was treated successfully. To solve the complex problems that these babies and their families are facing, a multidisciplinary approach is needed.

13.
Open Med (Wars) ; 18(1): 20230704, 2023.
Article in English | MEDLINE | ID: mdl-37197356

ABSTRACT

Congenital malformations are defined as single or multiple defects of the morphogenesis of organs or body parts, identifiable during intrauterine life or at birth. With recent advances in prenatal detection of congenital malformations, many of these disorders can be identified early on a routine fetal ultrasound. The aim of the present systematic review is to systematize the current knowledge about the mode of delivery in pregnancies complicated by fetal anomalies. The databases Medline and Ebsco were searched from 2002 to 2022. The inclusion criteria were prenatally diagnosed fetal malformation, singleton pregnancy, and known delivery mode. After the first round of research, 546 studies were found. For further analysis, studies with full text available concerning human single pregnancy with known neonatal outcomes were considered. Publications were divided into six groups: congenital heart defects, neural tube defects, gastroschisis, fetal tumors, microcephaly, and lung and thorax malformations. Eighteen articles with a descripted delivery mode and neonatal outcome were chosen for further analysis. In most pregnancies complicated by the presence of fetal anomalies, spontaneous vaginal delivery should be a primary option, as it is associated with lower maternal morbidity and mortality. Cesarean delivery is generally indicated if a fetal anomaly is associated with the risk of dystocia, bleeding, or disruption of a protective sac; examples of such anomalies include giant omphaloceles, severe hydrocephalus, and large myelomeningocele and teratomas. Fetal anatomy ultrasound should be carried out early, leaving enough time to familiarize parents with all available options, including pregnancy termination, if an anomaly is detected.

14.
Proc (Bayl Univ Med Cent) ; 36(3): 346-350, 2023.
Article in English | MEDLINE | ID: mdl-37091760

ABSTRACT

Ebstein anomaly is a rare congenital cardiac condition associated with displacement and incompetence of the tricuspid valve. Peripartum anesthetic management can be particularly challenging since these patients are at high risk of cardiac failure and tachyarrhythmias. Risk stratification is important since it helps to identify high-risk patients who should deliver at a tertiary care center where a multidisciplinary team (obstetrics, cardiology, anesthesiology, and neonatology) is immediately available. We describe the peripartum anesthetic management of 9 patients with Ebstein anomaly who underwent 12 deliveries at our institution. All patients tolerated neuraxial anesthesia and analgesia well. No maternal or fetal deaths occurred.

15.
Int J Paleopathol ; 40: 33-40, 2023 03.
Article in English | MEDLINE | ID: mdl-36455429

ABSTRACT

OBJECTIVE: To contribute to differential diagnosis of multiple epiphyseal dysplasia (MED) in archeological and clinical contexts. MATERIALS: A skeleton of a 30- to 45-year-old male (grave no. 806) from the Late Migration Period graveyard in Drnholec-Pod sýpkou (Czech Republic), radio-carbon dated to AD 492-530. METHODS: Morphological and metric analyses. RESULTS: Significant pathological changes were noted on ossa coxae and proximal ends of the femora, which appear similar to changes associated with Legg-Calvé-Perthes disease. X-ray examination made it possible to rule out pseudoachondroplasia, rickets and metabolic bone diseases. CONCLUSIONS: The finding was evaluated as a probable case of congenital multiple epiphyseal dysplasia. SIGNIFICANCE: This case will contribute to the construction of estimates of the occurrence of this disease in historical populations and can be instructive for diagnostics in current medical practice. LIMITATIONS: The final diagnosis is limited by the lack of genetic analysis. SUGGESTION FOR THE FUTURE RESEARCH: Further clarification leading to diagnosis will benefit from genetic analysis and evaluation of skeletal remains throughout Europe.


Subject(s)
Achondroplasia , Legg-Calve-Perthes Disease , Osteochondrodysplasias , Male , Humans , Adult , Middle Aged , Czech Republic , Cemeteries
16.
Eur J Pediatr ; 182(1): 319-328, 2023 Jan.
Article in English | MEDLINE | ID: mdl-36350406

ABSTRACT

The total uptake of prenatal aneuploidy screening for Down syndrome (DS) is increasing worldwide. As a result of increasing prenatal diagnosis of DS and subsequent termination of pregnancy, livebirth prevalence of DS is decreasing. The aim of this study is to explore the impact of an increasing uptake of prenatal aneuploidy screening on the neonatal mortality and morbidity in DS. This is a retrospective cohort study of 253 neonates with DS born between 2012 and 2018 that were seen at the outpatient clinic of five hospitals in the Netherlands. The medical files were reviewed for maternal and neonatal characteristics and neonatal morbidities. The Dutch national birth registry (Perined) provided mortality numbers of neonates with DS. The results were interpreted in the context of other published studies. Neonatal mortality in DS remained stable, ranging from 1.4 to 3.6%. A congenital heart defect (CHD) was found in 138 of the 251 neonates (55.0%) with atrial septal defect, atrioventricular septal defect, and ventricular septal defect being the most common. The type of CHD in DS did not change over time. Gastro-intestinal defects were present in 22 of the 252 neonates with DS (8.7%), with duodenal atresia as the most reported anomaly. Persistent pulmonary hypertension of the neonate (PPHN) was found in 31 of the 251 infants (12.4%).  Conclusions: Although uptake of prenatal aneuploidy screening increased, neonatal mortality and morbidity in DS appears to be stable. An increased incidence of PPHN was found. What is Known: • The total uptake of prenatal aneuploidy screening for Down syndrome is increasing worldwide. • As a result of increasing prenatal diagnosis of Down syndrome and subsequent termination of pregnancy, the livebirth prevalence of Down syndrome is decreasing. What is New: • Although uptake of prenatal aneuploidy screening increased, neonatal mortality and morbidity in Down syndrome appears to be stable. • An increased incidence of persistent pulmonary hypertension of the neonate was found.


Subject(s)
Down Syndrome , Heart Defects, Congenital , Hypertension, Pulmonary , Infant , Infant, Newborn , Pregnancy , Female , Humans , Down Syndrome/diagnosis , Down Syndrome/epidemiology , Retrospective Studies , Heart Defects, Congenital/epidemiology , Infant Mortality , Incidence , Aneuploidy
17.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1515271

ABSTRACT

Introducción: Las fisuras labiopalatinas son los defectos congénitos más frecuentemente atendidas en los servicios de cirugía maxilofacial pediátricos. Estas aparecen precozmente en la vida intrauterina durante el período embrionario e inicio del período fetal. Objetivo: Examinar las características clínicas de pacientes con fisuras labiopalatinas. Métodos: Estudio descriptivo, retrospectivo y transversal. El universo de estudio quedó conformado por 91 historias clínicas de pacientes atendidos en el departamento de Cirugía Maxilofacial del Hospital Pediátrico Universitario "William Soler Ledea" en La Habana, entre 2015 y 2019. Las variables medidas fueron edad, sexo, tipo de fisura, defectos congénitos aislados y defectos congénitos múltiples. Resultados: Predominaron las féminas con 57,1 % y las edades menores de un año para el 54,9 %. Las fisuras palatinas aisladas se presentaron con mayor frecuencia (39,6 %) y las fisuras labiales del lado izquierdo se mostraron en 18 pacientes (32,7 %). El defecto congénito aislado más usual resultó la comunicación interventricular (4,4 %) y el defecto congénito múltiple resultó el síndrome de Goldenhar (5,5 %). Conclusiones: En los niños estudiados con fisuras labiopalatinas existió predominio del sexo femenino, fundamentalmente, en las niñas con menos de cinco años. La fisura palatina aislada resultó la más frecuente; un pequeño grupo de pacientes presentó defectos congénitos asociados, sobre todo cardiovasculares; y los defectos congénitos múltiples se vincularon con mayor frecuencia con las fisuras palatinas aisladas.


Introduction: Cleft lip and palate are the most frequently seen congenital defects in pediatric maxillofacial surgery services. They appear early in intrauterine life during the embryonic and early fetal period. Objective: To examine the clinical characteristics of patients with cleft lip and palate. Methods: Descriptive, retrospective and cross-sectional study. The study universe consisted of 91 clinical histories of patients attended at the Maxillofacial Surgery Department of "William Soler Ledea" University Pediatric Hospital in Havana, between 2015 and 2019. The variables measured were age, sex, type of cleft, isolated congenital defects and multiple congenital defects. Results: Females predominated with 57.1% and ages younger than one year (54.9%). Isolated cleft palates were more frequent (39.6%) and left-sided lip clefts were present in 18 patients (32.7%). The most usual isolated congenital defect was ventricular septal defect (4.4 %) and multiple congenital defect resulted in Goldenhar syndrome (5.5%). Conclusions: In the children studied with cleft lip and palate there was a predominance of the female sex, mainly in girls under five years of age. Isolated cleft palate was the most frequent; and small group of patients presented cleft palate defects.

18.
J Prev Med Hyg ; 63(2 Suppl 3): E65-E73, 2022 Jun.
Article in English | MEDLINE | ID: mdl-36479491

ABSTRACT

During pregnancy, rapid and subtle physiological changes are observed from conception to birth. Nutrition and other lifestyle factors before and during pregnancy have been shown in the literature to influence the health of both mother and child. A healthy and varied diet during pregnancy can provide adequate energy and nutrients for both the mother and the growing fetus. Current research focuses on the periconceptional phase, which includes the early processes of gametogenesis, embryogenesis and placentation. A variety of abnormalities and pregnancy-related problems occur during this period, including congenital defects, fetal loss, miscarriage and preterm birth. A varied and balanced diet during periconception is important to maintain fetal development and growth. To date, numerous studies have been conducted to investigate the effects of consuming different nutrients, foods or food groups during pregnancy on the health of mother and child. For example, the Mediterranean diet is considered as a balanced, nutrient-rich diet due to the low consumption of meat products and fatty foods and the high consumption of vegetables, cheese, olive oil, fish, shellfish and little meat. While many studies have been conducted in the literature to investigate the effects of a Mediterranean diet during pregnancy on fetal health, the results have been inconclusive. The aim of this article is to review the current literature on the Mediterranean diet during pregnancy.


Subject(s)
Diet, Mediterranean , Premature Birth , Infant, Newborn , Humans , Child , Female , Pregnancy , Child Health , Mothers , Health Status
19.
Trop Anim Health Prod ; 55(1): 26, 2022 Dec 24.
Article in English | MEDLINE | ID: mdl-36565391

ABSTRACT

In this work, we investigated cases of birth of calves with congenital defects in a farm in Southern Brazil. Only calves born from heifers were affected, and the disease occurred in both crossbred and purebred calves. Three necropsies were performed, tissues were collected for histopathology, and samples of liver of calves, blood serum, and food provided for cows and heifers were collected to quantify the levels of the minerals: manganese, copper, and zinc. The calves were born weak, with disproportionate dwarfism, limb deformities, and enlarged joints. Heads were shortened and domed. Long bones had a shortened diaphysis and a normal-sized epiphysis, when compared to the control. In one of the cases, there were white-yellowish lines on the metaphyseal surface of the epiphyseal plate. Histopathology of growth plates revealed premature closure, disarrangement of chondrocyte columns, and collapse of primary spongiosa. These findings supported a diagnosis of chondrodysplasia. Liver manganese levels were under the reference values in the three calves. Food analysis revealed insufficient levels of manganese in the diet of heifers, especially in sorghum silage, which was provided as the main source of food for the category in some periods. Approximately 6 months after the diet was changed, the problem ceased and only normal calves continued to be born. Our findings allowed to conclude the diagnosis of chondrodysplasia of nutritional origin and reinforce the thesis that manganese is the mineral deficient in these cases.


Subject(s)
Cattle Diseases , Manganese , Animals , Cattle , Female , Brazil , Minerals , Copper , Zinc , Cattle Diseases/epidemiology
20.
Cureus ; 14(9): e29624, 2022 Sep.
Article in English | MEDLINE | ID: mdl-36320963

ABSTRACT

Bifid mandibular condyle (BMC) is splitting the mandibular condyle into two separate articular surfaces. The etiology is poorly understood, but trauma and developmental issues are currently the most cited causes. Though most often asymptomatic, occasionally, this condition may cause the development of jaw pain, clicking, and restriction of motion. We present a rare case of a patient who developed unilateral ankylosis of the temporomandibular joint (TMJ) secondary to BMC in the absence of trauma or infection. The ankylosis developed due to abnormal biomechanical forces and degenerative arthritis secondary to the abnormal articulation of the TMJ caused due to BMC. CT imaging is the best modality to evaluate the bony anatomy of the TMJ. It is essential to consider BMC as a cause of TMJ pathology, as management is primarily surgical in nature.

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