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1.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1569230

ABSTRACT

Se describe el caso clínico de una paciente de 8 años de edad, sexo femenino que presenta respiración oral, anomalía dentomaxilar, interposición lingual en deglución, fonación, lengua descendida en reposo y adaptaciones musculoesqueléticas por lo que requiere tratamiento de Ortodoncia, Fonoaudiología y Kinesiología. El presente reporte de caso describe la interacción de las especialidades requeridas para el manejo adecuado de la paciente y expone un flujograma sugerido para abordar casos similares.


The following is a clinical case of an eight-year-old female patient who presents oral respiration, dentomaxilar anomaly, tongue interposition during swallowing and phonation, lowered tongue at rest and musculoskeletal adaptations, hence requires orthodontics, speech and physical therapy. This case report describes the interaction of the specialties necessary for the proper management of the patient and presents a suggested flow chart to address similar cases.

2.
Environ Sci Pollut Res Int ; 31(39): 51114-51125, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39120815

ABSTRACT

Agrochemicals are substances used to prevent, destroy, or mitigate any pest. Their indiscriminate use can cause serious problems in ecosystems, contaminating surface and groundwater and affecting surrounding biota. However, in the environment, various natural processes such as biological degradation and photodegradation can mitigate their persistence and, consequently, their ecotoxicological impact. In this regard, this study aimed to obtain relevant data on the cytotoxic effects produced by pesticides on bioindicator plants. As observed in the literature review, cellular inhibition, nuclear anomalies, and micronucleus index are some of the different impacts commonly known from pesticides. These chemical substances can cause cytogenetic alterations in a plant bioassay. Plant bioindicators such as Allium cepa L, Vicia faba L, Pisum sativum L, Lactuca sativa L, and Lens culinaris Med are very important and effective experimental models for identifying the cytogenotoxicity of pesticides. These have been available for many years. However, they are still used today for their effectiveness in detecting and monitoring chemical substances such as agrochemicals.


Subject(s)
Pesticides , Pesticides/toxicity , Plants/drug effects , Onions/drug effects
3.
J Med Case Rep ; 18(1): 361, 2024 Aug 03.
Article in English | MEDLINE | ID: mdl-39095912

ABSTRACT

INTRODUCTION: Herlyn-Werner-Wunderlich syndrome , a rare Müllerian ducts congenital disease, is characterized by a diphtheritic uterus, blind hemivagina, and ipsilateral renal agenesis. Diagnosis is at young age by ultrasound and magnetic resonance imaging, and the prognosis is good. Usually, complications evolve endometriosis and secondary pelvic inflammation. CASE REPORT: A 40-year-old female patient, Brazilian, white, primigravida, diagnosed at 30 years with a didelphic uterus on ultrasound, and 4 years later, with a left ovarian endometrioma, multiple ovarian cysts, and left renal agenesis on magnetic resonance imaging. Subsequently, due to dyspareunia and a feeling of swelling, the patient underwent transvaginal ultrasound with bowel preparation, and a hematocolpos was found and Herlyn-Werner-Wunderlich syndrome was suspected; 10 years after the diagnosis she had a planned pregnancy. She presented frequent contractions following the 15th week of pregnancy and fortunately there were no complications or premature labor. Labor was inducted at 40 weeks and 6 days without progress and a cesarean section was indicated and performed without complications. Herlyn-Werner-Wunderlich syndrome often goes unnoticed, leading to inadequate treatment. Individuals with Herlyn-Werner-Wunderlich syndrome commonly face fertility issues, such as high miscarriage rate (21-33%), and obstetric complications, such as spontaneous abortions (40% risk), intrauterine growth restriction, postpartum hemorrhage, increased fetal mortality, preterm delivery (21-29%), and elevated rates of cesarean sections. In addition, there is higher susceptibility of developing endometriosis, especially with hemivaginal obstruction, and pelvic adhesions. CONCLUSION: Early diagnosis enables timely treatment and, consequently, fewer complications. Still, when these factors are absent, vaginal birth may still be possible. The true prevalence and incidence of complications related to Herlyn-Werner-Wunderlich syndrome are still unknown.


Subject(s)
Endometriosis , Humans , Female , Adult , Endometriosis/complications , Pregnancy , Uterus/abnormalities , Uterus/diagnostic imaging , Cesarean Section , Kidney/abnormalities , Mullerian Ducts/abnormalities , Abnormalities, Multiple , Congenital Abnormalities/diagnosis , Congenital Abnormalities/diagnostic imaging , Vagina/abnormalities , Pregnancy Complications , Kidney Diseases/congenital , Kidney Diseases/diagnosis
4.
Animals (Basel) ; 14(15)2024 Jul 30.
Article in English | MEDLINE | ID: mdl-39123739

ABSTRACT

Cardiac congenital defects related to inheritance and teratogenesis have been reported in veterinary species and humans worldwide. Among these, ectopia cordis (EC), characterized by an externalized heart through a cleft, is extremely rare in sheep. This report presents the diagnostic features of two cases of complete thoracic EC in newborn lambs. Clinical findings in the lambs, aside from the EC, were unremarkable. Both animals exhibited exteriorized hearts without pericardial coverage, delineated in the thoracic cleft by a fibrous ring of the pericardium and adjacent skin. Histologically, the epicardium was thickened by fibrous tissue in both lambs, with one animal also showing marked edema, hemorrhage, and neutrophilic inflammatory infiltration. The prognosis of EC in the lambs of this study was poor, with fatal outcomes despite attempts at surgical correction.

5.
Mol Biol Rep ; 51(1): 822, 2024 Jul 18.
Article in English | MEDLINE | ID: mdl-39023774

ABSTRACT

BACKGROUND: Testicular descent is a physiological process regulated by many factors. Eventually, disturbances in the embryological/fetal development path facilitate the occurrence of scrotal hernia, a congenital malformation characterized by the presence of intestinal portions within the scrotal sac due to the abnormal expansion of the inguinal ring. In pigs, some genes have been related to this anomaly, but the genetic mechanisms involved remain unclear. This study aimed to investigate the expression profile of a set of genes potentially involved with the manifestation of scrotal hernia in the inguinal ring tissue. METHODS AND RESULTS: Tissue samples from the inguinal ring/canal of normal and scrotal hernia-affected male pigs with approximately 30 days of age were used. Relative expression analysis was performed using qPCR to confirm the expression profile of 17 candidate genes previously identified in an RNA-Seq study. Among them, the Myosin heavy chain 1 (MYH1), Desmin (DES), and Troponin 1 (TNNI1) genes were differentially expressed between groups and had reduced levels of expression in the affected animals. These genes encode proteins involved in the formation of muscle tissue, which seems to be important for increasing the resistance of the inguinal ring to the abdominal pressure, which is essential to avoid the occurrence of scrotal hernia. CONCLUSIONS: The downregulation of muscular candidate genes in the inguinal tissue clarifies the genetic mechanisms involved with this anomaly in its primary site, providing useful information for developing strategies to control this malformation in pigs and other mammals.


Subject(s)
Down-Regulation , Scrotum , Animals , Male , Swine/genetics , Scrotum/metabolism , Scrotum/abnormalities , Scrotum/pathology , Down-Regulation/genetics , Hernia, Inguinal/genetics , Hernia, Inguinal/metabolism , Hernia, Inguinal/veterinary , Gene Expression Profiling/methods , Swine Diseases/genetics , Swine Diseases/metabolism , Myosin Heavy Chains/genetics , Myosin Heavy Chains/metabolism
6.
Bol Med Hosp Infant Mex ; 81(Supl 2): 1-28, 2024.
Article in English | MEDLINE | ID: mdl-39009029

ABSTRACT

Infantile hemangioma is a benign vascular tumor, the most common in childhood, whose natural evolution is the disappearance of the lesion in the pediatric age and which has effective and safe treatments that limit its growth and favor its disappearance at younger ages. Infantile hemangioma continues to be a reason for attention to complications, due to erroneous diagnoses, lack of knowledge of the condition, late referral or fear of the effects of the medications used for its treatment. Furthermore, its presence is normalized without taking into account that it can cause uncertainty, anxiety, feelings of guilt and, as a consequence, a significant impact on the quality of life, mainly in the parents or caregivers of the child. The need for a clinical practice guideline in our country arises from the high presentation of late-remitted complications in infantile hemangioma even with the availability of adequate treatments, the continuous evolution of medicine and the appearance of new evidence. Throughout the guide you will find recommendations regarding the diagnosis, treatment and follow-up of patients with infantile hemangioma, taking into account the paraclinical tests that can be performed, topical or systemic management options, as well as adjuvant therapies. For the first time, objective tools for patient follow-up are included in a guide for the management of infantile hemangioma, as well as to help the first contact doctor in timely referral.


El hemangioma infantil es un tumor vascular benigno, el más frecuente de la infancia, cuya evolución natural favorece la desaparición de la lesión en la misma edad pediátrica y que cuenta con tratamientos eficaces y seguros que limitan su crecimiento y favorecen su desaparición a edades más tempranas. Continúa siendo motivo de atención de complicaciones, debido a diagnósticos erróneos, desconocimiento del padecimiento, referencia tardía o temor de los efectos de los fármacos utilizados para su tratamiento. Además, se normaliza su presencia sin tomar en cuenta que puede llegar a causar incertidumbre, ansiedad, sentimientos de culpa y, como consecuencia, importante afectación de la calidad de vida, principalmente en los padres o cuidadores del niño. La necesidad de una guía de práctica clínica en nuestro país surge ante la alta presentación de complicaciones del hemangioma infantil referidas de manera tardía aun con la disponibilidad de tratamientos adecuados, la evolución continua de la medicina y la aparición de nueva evidencia. A lo largo de la guía se encontrarán recomendaciones en relación con el diagnóstico, el tratamiento y el seguimiento de los pacientes con hemangioma infantil, tomando en cuenta los paraclínicos que pueden realizarse, las opciones de manejo tópico o sistémico, y las terapias adyuvantes. Por primera vez se incluyen en una guía para el manejo del hemangioma infantil herramientas objetivas para el seguimiento de los pacientes, así como para ayudar al médico de primer contacto en su referencia oportuna.


Subject(s)
Hemangioma , Humans , Infant , Follow-Up Studies , Hemangioma/diagnosis , Hemangioma/therapy , Mexico , Quality of Life
7.
Diabetol Metab Syndr ; 16(1): 157, 2024 Jul 11.
Article in English | MEDLINE | ID: mdl-38992793

ABSTRACT

OBJECTIVE: To describe the frequency and types of congenital anomalies and associated risk factors in Brazilian women with type 2 diabetes. METHODS: In this retrospective cohort study between 2005 and 2021, we included all pregnant participants with type 2 diabetes from the two major public hospitals in southern Brazil. We collected data from the electronic hospital records. Congenital anomalies were classified by the 10th revised International Classification of Diseases, Q chapter, enhanced by the EUROCAT registry classification, and categorized by type and gravity. We used multiple Poisson regression with robust estimates to estimate risks. RESULTS: Among 648 participants, we excluded 19, and 62 were lost to follow-up; therefore, we included 567 participants. Overt diabetes arose in 191 participants (33.7%, 95% CI 30.0% - 38.0%). Less than 20% of the participants supplemented folate. Congenital anomalies occurred in 78 neonates (13.8%, CI 11.0 - 16.9%), 73 babies (93.6%) presented major anomalies, and 20 (10.5%) cases occurred in participants with overt diabetes. Cardiac anomalies were the most frequent (43 isolated and 12 combined). Pre-eclampsia was associated with an increased risk in the analyses including all women (adjusted RR 1.87 (95% CI 1.23-2.85), p = 0.003), but not in analyses including only women with an HbA1c measured up to the 14th gestational age. HbA1c, either measured at any time in pregnancy (adjusted RR 1.21 (95% CI 1.10-1.33), p < 0.001) or up to the first 14 weeks (adjusted RR 1.22, 95% CI 1.10-1.35, p < 0.001) was the only sustained risk factor. Risk factors such as maternal age, obesity, diabetes diagnosis, or use of antidiabetic medications were not associated with congenital anomalies. CONCLUSION: We found a high frequency of congenital anomalies associated with poor maternal glycemic control and revealed an almost universal lack of preconception care. An urgent call to action is mandatory for the reversal of this gray scenario.

8.
PeerJ Comput Sci ; 10: e2041, 2024.
Article in English | MEDLINE | ID: mdl-38983228

ABSTRACT

Cybersecurity has become a central concern in the contemporary digital era due to the exponential increase in cyber threats. These threats, ranging from simple malware to advanced persistent attacks, put individuals and organizations at risk. This study explores the potential of artificial intelligence to detect anomalies in network traffic in a university environment. The effectiveness of automatic detection of unconventional activities was evaluated through extensive simulations and advanced artificial intelligence models. In addition, the importance of cybersecurity awareness and education is highlighted, introducing CyberEduPlatform, a tool designed to improve users' cyber awareness. The results indicate that, while AI models show high precision in detecting anomalies, complementary education and awareness play a crucial role in fortifying the first lines of defense against cyber threats. This research highlights the need for an integrated approach to cybersecurity, combining advanced technological solutions with robust educational strategies.

9.
Pediatr Cardiol ; 2024 Jun 02.
Article in English | MEDLINE | ID: mdl-38825661

ABSTRACT

This study aimed to analyze prenatal cardiac ultrasound markers of outcome in fetuses with Ebstein's anomaly (EA). From a retrospective database, 35 fetuses diagnosed with EA at fetal medicine centers in Brazil, Italy, and Poland were retrieved. The primary outcome was perinatal mortality. We analyzed prenatal cardiac ultrasound markers of outcomes and perinatal follow-up. Gestational age at diagnosis, extracardiac fetal anomalies, spontaneous fetal demise, and gestational age at each event were recorded. In postnatal survivors, data on cardiac surgery and short-term postoperative outcomes were collected. Our study included a cohort of 35 fetuses with EA (mean gestational age of 29.4 weeks), in which 6 fetuses were excluded due to termination of pregnancy (3), pregnancy still ongoing (2), and missed follow-up (1). Of the remaining 29 cases, severe tricuspid regurgitation and absence of anterograde pulmonary flow (pulmonary atresia) were observed in 88%. Significant cardiomegaly accounts for 58% of these data with a mean cardiothoracic ratio of 0.59. The cardiovascular profile (CVS) score ≤ 6 in six patients with one survival (4 fetal deaths, one stillbirth, and one survival). All fetuses with CVS score of 5 had intrauterine demise. Seventeen fetuses were born alive (53.1% of 29 cases). Of the remaining fetuses, one (1%) fetal was a stillbirth, six (20%) fetuses were neonatal deaths, and five (17%) fetuses were fetal deaths. Of the nineteen patients who underwent surgery to correct the cardiac defect, 17 survived after surgery. Among the survivors, biventricular cardiac repair was performed using the cone technique (da Silva's approach) in the majority of cases. We observed 2 abnormal karyotypes among in the remaining 29 fetuses. One of the patients with abnormal karyotype was a fetus with ascites and large for gestational age. The other patient with abnormal karyotype underwent cardiac surgery and progressed to neonatal death. Nine patients (25%) had extracardiac anomalies (genitourinary anomalies and single umbilical artery), being that 2 of them are alive and 4 died (2 had fetal and 2 neonatal death). Fetal EA is associated with high mortality. The most common prenatal marker associated with non-survival was CVP score ≤ 6. Fetuses that survived and underwent postnatal corrective surgery are significantly favorable outcomes.

10.
J Vasc Bras ; 23: e20230150, 2024.
Article in English | MEDLINE | ID: mdl-38803656

ABSTRACT

Persistent double dorsal aorta is an extremely rare congenital anomaly, with only 13 cases published to date. The objective of this study is to present this embryological variant as observed in the abdominal aorta of a patient. The anatomical description was written up on the basis of a review of electronic medical records and imaging exams. The patient in this case was an elderly 79-year-old man who presented at emergency with pain at rest in the left lower limb. He was admitted and laboratory tests and imaging exams were ordered. The variation was an imaging finding observed on angiotomography, consisting of complete separation of the abdominal aorta into two portions - a ventral and a dorsal, with different calibers - at the level of the third lumbar vertebra. There was also an anomalous origin of the inferior mesenteric artery.

11.
J Vasc Surg Cases Innov Tech ; 10(4): 101509, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38799649

ABSTRACT

A persistent sciatic artery (PSA) is a rare congenital vascular anomaly, with an estimated prevalence ranging from 0.01% to 0.05%. This condition can cause ischemic events in the lower limbs and sciatic artery aneurysms but can also be asymptomatic. A PSA can complicate the treatment of other coexistent vascular diseases due to the thin caliber of the external iliac and femoral arteries. We report a case of a patient with bilateral PSAs and an infrarenal aortic aneurysm. The aneurysm was successfully treated by the endovascular approach. An ultra-low profile endograft associated with access incisions slightly above the usual position was used to overcome this challenging access.

12.
Int. j interdiscip. dent. (Print) ; 17(1): 45-47, abr. 2024. ilus
Article in Spanish | LILACS | ID: biblio-1558096

ABSTRACT

La displasia dentinaria tipo I (DD-I) corresponde a una alteración dentinaria de heterogeneidad genética y penetrancia completa, en donde se presenta un defecto en el desarrollo de las raíces de los dientes tanto temporales como definitivos. Clínicamente se observan dientes con extrema movilidad junto con antecedentes de exfoliación prematura o espontánea. Los defectos estructurales de los tejidos dentarios, tales como DD-I; implican un desafío ya que son pocos los casos documentados en la literatura que hablan de esta condición. Además implican un tratamiento multidisciplinario y altamente invasivo. El objetivo de este artículo es presentar dos casos de DD-I, enfatizando en su tratamiento y características histopatológicas.


Dentin Dysplasia Type I (DD-I) consists of a pathological dentinary alteration with genetic heterogeneity that results in a defectuous development of dental roots both in primary and secondary dentition. Clinically we can appreciate teeth with extreme pathological mobility and premature or spontaneous exfoliation. Alterations within normal dental structure, such as DD-I imply a challenge for the common practitioner, because of the scarce number of case reports with in the scientific literature regarding this condition and also, because of the need for a highly invasive and multidisciplinary approach they require. The aim of this article is to present two DD-I cases, emphasizing on their treatment and histopathological features.


Subject(s)
Humans , Female , Adolescent , Adult , Tooth Root/anatomy & histology , Penetrance , Dentin Dysplasia
13.
14.
J Pediatr ; 270: 114013, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38494089

ABSTRACT

OBJECTIVE: To define major congenital anomaly (CA) subgroups and assess outcome variability based on defined subgroups. STUDY DESIGN: This population-based cohort study used registries in Denmark for children born with a major CA between January 1997 and December 2016, with follow-up until December 2018. We performed a latent class analysis (LCA) using child and family clinical and sociodemographic characteristics present at birth, incorporating additional variables occurring until age of 24 months. Cox proportional hazards regression models estimated hazard ratios (HRs) of pediatric mortality and intensive care unit (ICU) admissions for identified LCA classes. RESULTS: The study included 27 192 children born with a major CA. Twelve variables led to a 4-class solution (entropy = 0.74): (1) children born with higher income and fewer comorbidities (55.4%), (2) children born to young mothers with lower income (24.8%), (3) children born prematurely (10.0%), and (4) children with multiorgan involvement and developmental disability (9.8%). Compared with those in Class 1, mortality and ICU admissions were highest in Class 4 (HR = 8.9, 95% CI = 6.4-12.6 and HR = 4.1, 95% CI = 3.6-4.7, respectively). More modest increases were observed among the other classes for mortality and ICU admissions (Class 2: HR = 1.7, 95% CI = 1.1-2.5 and HR = 1.3, 95% CI = 1.1-1.4, respectively; Class 3: HR = 2.5, 95% CI = 1.5-4.2 and HR = 1.5, 95% CI = 1.3-1.9, respectively). CONCLUSIONS: Children with a major CA can be categorized into meaningful subgroups with good discriminative ability. These groupings may be useful for risk-stratification in outcome studies.


Subject(s)
Congenital Abnormalities , Latent Class Analysis , Registries , Humans , Female , Male , Infant , Denmark/epidemiology , Infant, Newborn , Congenital Abnormalities/mortality , Child, Preschool , Cohort Studies , Patient Admission/statistics & numerical data , Intensive Care Units, Pediatric/statistics & numerical data , Intensive Care Units/statistics & numerical data , Hospitalization/statistics & numerical data , Child Mortality , Proportional Hazards Models
15.
Res Vet Sci ; 171: 105230, 2024 May.
Article in English | MEDLINE | ID: mdl-38492280

ABSTRACT

Congenital malformations can affect almost 7% of canine newborns. The increase of commercial dog breeding and inbreeding used to maintain the striking characteristics of each breed, the appearance of malformations has become increasingly common, especially in brachycephalic dogs. The causes are diverse, and include genetic, nutritional, iatrogenic, and infectious factors, often making it difficult to establish a cause-consequence relationship. The high mortality associated with malformations comes not only from the fact that some are incompatible with life, but also because even if many undergo surgical treatment or correction, they require specific management, monitoring, and clinical treatment for an indefinite period of time. The most common malformations such as cleft lip and palate, hydrocephalus and anasarca have been studied for a long time, and it is currently known that brachycephalic dogs have a greater predisposition, however, for other less common conditions as gastroschisis and hypospadias, there is only a few case reports. The appearance of congenital defects in a litter leads to financial losses for the breeder, emotional losses for the owner and the veterinarian and harms the well-being of that individual. For this reason, the aim of this review article is to gather relevant information on the characteristics, diagnosis, and management of the main malformations in puppies. It is essential that the veterinarian is prepared to diagnose and treat these conditions, reducing negative impacts on animals and owners.


Subject(s)
Cleft Lip , Cleft Palate , Craniosynostoses , Dog Diseases , Male , Dogs , Animals , Cleft Lip/veterinary , Cleft Palate/veterinary , Inbreeding , Craniosynostoses/veterinary , Dog Diseases/diagnosis , Dog Diseases/therapy
16.
Echocardiography ; 41(4): e15806, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38549419

ABSTRACT

3D virtual and physical models from ultrasound scan data allow a 3D spatial view of congenital heart anomalies, interactive discussion among a multidisciplinary team, and improved parental counseling. To the best of our knowledge, this is the first description of 3D physical and virtual models of a fetal Ebstein anomaly.


Subject(s)
Ebstein Anomaly , Heart Defects, Congenital , Pregnancy , Female , Humans , Ebstein Anomaly/diagnostic imaging , Ultrasonography, Prenatal
17.
Rev. chil. obstet. ginecol. (En línea) ; Rev. chil. obstet. ginecol;89(1): 48-51, feb. 2024. ilus
Article in Spanish | LILACS | ID: biblio-1559721

ABSTRACT

La anomalía de Ebstein es una cardiopatía congénita rara y poco frecuente caracterizada por el adosamiento de los velos valvulares tricuspídeos; en la etapa prenatal se estima que su incidencia corresponde a un 3% de todas las cardiopatías diagnosticadas. Se presenta el caso de un feto con diagnóstico de anomalía de Ebstein a quien se le realizó un diagnóstico prenatal adecuado, lo que permitió planificar el nacimiento neonatal con un equipo multidisciplinario integral. Debido a la rareza del diagnóstico prenatal de esta entidad, se describe el caso clínico y los hallazgos imagenológicos representativos.


Ebsteins anomaly is a rare and infrequent congenital heart disease characterized by the attachment of the tricuspid valve leaflets; in the prenatal stage it is estimated that its incidence corresponds to 3% of all diagnosed heart diseases. We present the case of a fetus diagnosed with Ebsteins anomaly who underwent an adequate prenatal diagnosis, which made it possible to plan the neonatal birth with a comprehensive multidisciplinary team. Due to the rarity of the prenatal diagnosis of this entity, the clinical case and the representative imaging findings are described.


Subject(s)
Humans , Male , Female , Pregnancy , Infant, Newborn , Adolescent , Echocardiography , Ebstein Anomaly/diagnostic imaging , Pregnancy Outcome , Ultrasonography, Prenatal , Watchful Waiting
18.
Acta Paediatr ; 113(6): 1420-1425, 2024 06.
Article in English | MEDLINE | ID: mdl-38363039

ABSTRACT

AIM: This study reports the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins subsequently diagnosed with Wilms tumour (WAGR syndrome). METHODS: Two monozygotic female twins were referred at age 2 months with bilateral corneal opacity. A diagnosis of Peters' anomaly associated to aniridia was made in both eyes of both twins. Physical examination and ultrasonography were carried out at 12 months of age to explore the possibility of WAGR-related anomalies, specifically Wilms tumour. DNA were isolated and subjected to whole exome sequencing. RESULTS: Peters' anomaly associated to aniridia in both eyes as well as bilateral Wilms tumour in both children were diagnosed. Exome analyses showed a large heterozygous deletion encompassing 6 648 473 bp in chromosome 11p13, using Integrative Genomics Viewer and AnnotSV software. CONCLUSION: WAGR syndrome is a rare contiguous gene deletion syndrome with a greater risk of developing Wilms tumour associated with Peters' anomaly and congenital aniridia. However, co-occurrence of both anomalies was rarely reported in twins, and never in both eyes of monozygotic twins. Here, we report the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins with WAGR syndrome.


Subject(s)
Aniridia , Corneal Opacity , Twins, Monozygotic , WAGR Syndrome , Wilms Tumor , Humans , Female , Twins, Monozygotic/genetics , WAGR Syndrome/genetics , Aniridia/genetics , Aniridia/complications , Wilms Tumor/genetics , Wilms Tumor/complications , Infant , Corneal Opacity/genetics , Anterior Eye Segment/abnormalities , Anterior Eye Segment/diagnostic imaging , Eye Abnormalities/genetics , Eye Abnormalities/diagnostic imaging , Eye Abnormalities/complications , Diseases in Twins/genetics , Kidney Neoplasms/genetics , Kidney Neoplasms/diagnostic imaging , Kidney Neoplasms/complications
19.
Pediatr Dermatol ; 41(3): 451-454, 2024.
Article in English | MEDLINE | ID: mdl-38332221

ABSTRACT

BACKGROUND: The presence of a vascular, blue linear discoloration on the nasal root of infants and young children is a frequent incidental feature, rarely reported in the medical literature. It is related to the trajectory of the transverse nasal root vein (TNRV). OBJECTIVE: To study the frequency and clinical characteristics of the vascular discoloration of the nasal root in children. METHODS: A prospective study was performed to address the presence or absence of vascular discoloration of the nasal root in all children under 6 years of age attending a pediatric dermatology clinic from November 2022 to November 2023. Data on age and skin phototype (Fitzpatrick classification I-VI) were also collected. RESULTS: Of 701 patients examined, 345 (49.2%) presented with a vascular discoloration of the nasal root. This was present in 97 of 193 (50.3%), 127 of 261 (48.7%), and 121 of 247 (49.0%) patients for the age groups 0-1, 1-3, and 3-6 years, respectively. The presence of vascular discoloration of the nasal root was more frequent in patients with lighter Fitzpatrick skin phototypes: 49 of 69 (71.0%) phototype II, 157 of 290 (54.1%) phototype III, and 137 of 337 (40.7%) phototype IV. CONCLUSIONS: A vascular discoloration of the nasal root is a frequent skin feature in infants and children, persisting at least until the age of 6. It does not constitute any medical problem aside from cosmetic concern and parents can be reassured of its benign nature. We propose the medical term "prominent TNRV" to describe this condition.


Subject(s)
Nose , Humans , Child, Preschool , Infant , Prospective Studies , Male , Female , Child , Nose/blood supply , Veins/abnormalities , Veins/anatomy & histology , Infant, Newborn , Skin Pigmentation
20.
Rev. peru. biol. (Impr.) ; 31(1): e26729, Jan.-Mar. 2024. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1565774

ABSTRACT

Abstract Beak deformity have a frequency of 0.5% in wild bird populations. In addition to being rare, beak deformities are also poorly reported in the Brazilian scientific literature. Here we report beak deformities in the species: Dendrocincla merula, Amazona ochrocephala and Pheugopedius genibarbis, all of which occurred in southwestern Brazilian Amazon. Dendrocolaptids make intensive use of their beaks in the search for insects and small vertebrates, where they explore in cracks in wood with lateral blows. In the case presented here, this behaviour may have been the cause of the breakage of the tip of this individual's maxilla. In Brazilian territory, few species of parrots were recorded with deformity in the beak and in the individual in this work, everything indicates that Amazona ochrocephala was a captive animal, as it was excessively thin and its diet probably had a low content of vitamins and calcium, where their deficiency even when the animal was a puppy may have contributed to the deformity of the maxilla. Cases of beak deformities in species of the Troglodytidae family are rare, but the individual in this work presented an unusual curvature in the maxilla not observed in other individuals in museum collections. Only with more reports will we be able to better understand the occurrence and causes of these beak deformities in wild birds.


Resumen La deformidad del pico es una característica rara y tiene una frecuencia baja, con 0.5% de casos en poblaciones de aves silvestres. Además de ser raras, las deformidades del pico también son escasamente reportadas en la literatura científica brasileña. Reportamos aquí deformidades en los picos de aves de las especies: Dendrocincla merula, Amazona ochrocephala y Pheugopedius genibarbis, en los cuales todos los registros ocurrieron en el sudoeste de la Amazonia brasileña. Los dendrocoláptidos hacen uso intensivo del pico en la búsqueda de insectos y pequeños vertebrados, explorando en grietas de la madera con golpes laterales. En el caso aquí presentado, este comportamiento de exploración pudo haber sido la causa de la rotura de la punta del maxilar de este individuo. En el territorio brasileño, pocas especies de loros fueron registradas con deformidad en el pico y en el individuo de este trabajo, todo indica que Amazona ochrocephala era un animal de cautiverio, ya que estaba excesivamente delgado y su dieta probablemente tenía un bajo contenido de vitaminas y calcio, donde su deficiencia incluso cuando el animal era un joven puede haber contribuido a la deformidad del maxilar. Los casos de deformidades del pico en especies de la familia Troglodytidae son raros, pero el individuo de este trabajo presentaba una curvatura inusual en el maxilar no observada en otros individuos de esta especie depositados en la colección científica. Sólo con más informes podremos entender mejor la ocurrencia y las causas de estas deformidades del pico en aves silvestres.

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