Agenesia de la vesícula biliar: una serie de casos multicéntrica y revisión de la literatura / Agenesis of the gallbladder: A multicenter case series and review of the bibliography

La agenesia de la vesícula biliar es una entidad rara en pediatría con una evolución normalmente silente, y representa un desafío diagnóstico para el médico que enfrenta estos casos por primera vez. Algunos pacientes pueden, sin embargo, presentar síntomas que simulan otras patologías del árbol biliar, y muchos de ellos son operados ante esta sospecha. Sin embargo, el diagnóstico oportuno de esta entidad permite llevar a cabo un tratamiento médico que muchas veces es suficiente para resolver el problema del paciente. Si bien es una condición benigna, los pacientes suelen presentar otras malformaciones asociadas que son más graves en naturaleza y que deben investigarse activamente para poder derivarlos a los especialistas de manera oportuna. Presentamos nuestra experiencia en el diagnóstico y tratamiento de estos pacientes, así como una breve revisión de la literatura. Esperamos que sea de utilidad para el médico que encuentre un caso similar.

Gallbladder agenesis is a rare condition in pediatrics that is usually asymptomatic and represents a diagnostic challenge for physicians seeing these cases for the first time. Some patients may, however, present with symptoms that mimic other diseases of the bile ducts, and many of them undergo surgery due to such suspicion. Still, a timely diagnosis of gallbladder agenesis allows for medical treatment that is often sufficient to resolve the patient's problem. Although it is a benign condition, patients often present with other associated, more serious malformations and should be actively studied for a timely referral to other specialists. Here we describe our experience with the diagnosis and treatment of these patients and a brief review of the bibliography. We hope it will be helpful for physicians facing similar cases.

Síndrome de Herlyn-Werner Wünderlich: reporte de dos casos / Herlyn-Werner-Wünderlich syndrome: Two case report

El síndrome de Herlyn-Werner Wünderlich, también llamado OHVIRA por sus siglas en inglés (obstructed hemivagina and ipsilateral renal anomaly), es una anomalía congénita mülleriana poco frecuente que se caracteriza por la asociación entre útero didelfo, hemivagina obstruida y agenesia renal ipsilateral. La presentación clínica más común es la masa abdominal secundaria a hematocolpos, dolor y dismenorrea. Se asocia a infertilidad, endometriosis, alteraciones menstruales y obstétricas. La ecografía es la técnica de elección para la evaluación inicial, mientras que la resonancia magnética sigue siendo el método más exacto para el diagnóstico. La septotomía vaginal es el tratamiento recomendado. Se describen 2 casos clínicos con el objetivo de destacar la importancia del diagnóstico temprano para evitar las posibles complicaciones futuras.

Herlyn-Werner-Wunderlich syndrome, also known as obstructed hemivagina and ipsilateral renal anomaly (OHVIRA), is a rare, congenital Müllerian duct anomaly characterized by the association of septate uterus, obstructed hemivagina, and ipsilateral renal agenesis. The most common clinical presentation is an abdominal mass secondary to hematocolpos, pain, and dysmenorrhea. It is associated with infertility, endometriosis, and menstrual and obstetric alterations. The ultrasound is the technique of choice for the initial assessment, while the magnetic resonance imaging remains the most accurate method for diagnosis. The resection of the vaginal septum is the recommended treatment. Here we describe 2 clinical cases to highlight the importance of an early diagnosis to prevent potential complications in the future.

Manejo de Linfangioma en la edad pediátrica: presentación de caso / Management of Lymphangioma in pediatric age: case presentation / Manejo do Linfangioma em idade pediátrica: apresentação de caso

Las malformaciones vasculares congénitas afectan con mayor frecuencia al sistema tegumentario y se hacen evidentes al nacer o en las primeras semanas de vida con una prevalencia estimada del 4,5%. Las anomalías linfáticas, suelen tener una presentación variable, y en la mayoría de ocasiones su manejo se convierte en un desafío. Se estima que su incidencia global oscila entre 1 en 2.000 y 1 en 16.0004,5 casos. Objetivo: Determinar la importancia de un adecuado manejo por cirugía vascular en el contexto de un paciente pediátrico con Linfangioma en miembro inferior tomando como metodología la presentación de un caso clínico. Descripción del caso: Paciente de 7 meses de edad sin antecedentes clínicos o quirúrgicos de interés, quien es traído por su madre a consulta de cirugía vascular por presencia de masa en miembro inferior derecho que progresivamente ha mostrado crecimiento, cuadro que se acompaña de tumefacción en partes blandas y roce o dolor a la distensión en la zona de la malformación, de acuerdo a la clasificación de Mulliken y Glowacki se concluye que se trata de un Linfangioma, diagnóstico que se corroboró por ultrasonografía Doppler, Angiotac y flebografía ascendente. Para su manejo se realizó drenaje percutáneo ecoguiado y escleroterapia mediante espuma de polidocanol al 1% para sellar la malformación vascular, obteniendo mejoría clínica con resultados estéticos y funcionales satisfactorios. Conclusión: El Linfangioma es una malformación vascular poco frecuente que no se ha documentado localmente, por lo tanto, la presentación de este caso pretendió proporcionar información científica actualizada sobre el tratamiento de la patología vascular y abogar por un manejo basado en la evidencia médica existente, que contribuya a resultados favorables para los pacientes pediátricos

Congenital vascular malformations most frequently affect the integumentary system and become evident at birth or in the first weeks of life with an estimated prevalence of 4.5%. Lymphatic anomalies usually have a variable presentation, and in most cases their management becomes a challenge. Its global incidence is estimated to range between 1 in 2,000 and 1 in 16,0004.5 cases. Objective: Determine the importance of adequate management by vascular surgery in the context of a pediatric patient with Lymphangioma in the lower limb using the presentation of a clinical case as a methodology. Description of the case: A 7-monthold patient with no clinical or surgical history of interest, who was brought by his mother to a vascular surgery consultation due to the presence of a mass in the right lower limb that has progressively shown growth, a condition that is accompanied by swelling in the soft tissues and friction or pain upon distension in the area of the malformation, according to the classification of Mulliken and Glowacki, it is concluded that it is a Lymphangioma, a diagnosis that was confirmed by Doppler ultrasonography, Angiotac and ascending phlebography. For its management, ultrasound-guided percutaneous drainage and sclerotherapy using 1% polidocanol foam was performed to seal the vascular malformation, obtaining clinical improvement with satisfactory aesthetic and functional results. Conclusion: Lymphangioma is a rare vascular malformation that has not been documented locally, therefore, the presentation of this case aimed to provide updated scientific information on the treatment of vascular pathology and advocate management based on existing medical evidence. that contributes to favorable outcomes for pediatric patients

As malformações vasculares congênitas afetam mais frequentemente o sistema tegumentar e tornam-se evidentes ao nascimento ou nas primeiras semanas de vida, com prevalência estimada em 4,5%. As anomalias linfáticas costumam ter apresentação variável e na maioria dos casos seu manejo torna-se um desafio. Estima-se que sua incidência global varie entre 1 em 2.000 e 1 em 16.0004,5 casos. Objetivo: Determinar a importância do manejo adequado por cirurgia vascular no contexto de um paciente pediátrico com Linfangioma em membro inferior utilizando como metodologia a apresentação de um caso clínico. Descrição do caso: Paciente de 7 meses, sem antecedentes clínicos ou cirúrgicos de interesse, que foi trazido pela mãe à consulta de cirurgia vascular devido à presença de uma massa no membro inferior direito que apresentava crescimento progressivo, quadro que vem acompanhado de inchaço nos tecidos moles e fricção ou dor à distensão na área da malformação, segundo a classificação de Mulliken e Glowacki, conclui-se que se trata de um Linfangioma, diagnóstico que foi confirmado por Ultrassonografia Doppler, Angiotac e flebografia ascendente. Para seu manejo foi realizada drenagem percutânea guiada por ultrassom e escleroterapia com espuma de polidocanol a 1% para selar a malformação vascular, obtendo melhora clínica com resultados estéticos e funcionais satisfatórios. Conclusão: O linfangioma é uma malformação vascular rara e não documentada localmente, portanto, a apresentação deste caso teve como objetivo fornecer informação científica atualizada sobre o tratamento da patologia vascular e defender uma gestão baseada na evidência médica existente que contribua para resultados favoráveis para a pediatria. pacientes

Manejo de Linfangioma en la edad pediátrica: presentación de caso

Las malformaciones vasculares congénitas afectan con mayor frecuencia al sistema tegumentario y se hacen evidentes al nacer o en las primeras semanas de vida con una prevalencia estimada del 4,5%. Las anomalías linfáticas, suelen tener una presentación variable, y en la mayoría de ocasiones su manejo se convierte en un desafío. Se estima que su incidencia global oscila entre 1 en 2.000 y 1 en 16.0004,5 casos. Objetivo: Determinar la importancia de un adecuado manejo por cirugía vascular en el contexto de un paciente pediátrico con Linfangioma en miembro inferior tomando como metodología la presentación de un caso clínico. Descripción del caso: Paciente de 7 meses de edad sin antecedentes clínicos o quirúrgicos de interés, quien es traído por su madre a consulta de cirugía vascular por presencia de masa en miembro inferior derecho que progresivamente ha mostrado crecimiento, cuadro que se acompaña de tumefacción en partes blandas y roce o dolor a la distensión en la zona de la malformación, de acuerdo a la clasificación de Mulliken y Glowacki se concluye que se trata de un Linfangioma, diagnóstico que se corroboró por ultrasonografía Doppler, Angiotac y flebografía ascendente. Para su manejo se realizó drenaje percutáneo ecoguiado y escleroterapia mediante espuma de polidocanol al 1% para sellar la malformación vascular, obteniendo mejoría clínica con resultados estéticos y funcionales satisfactorios. Conclusión: El Linfangioma es una malformación vascular poco frecuente que no se ha documentado localmente, por lo tanto, la presentación de este caso pretendió proporcionar información científica actualizada sobre el tratamiento de la patología vascular y abogar por un manejo basado en la evidencia médica existente, que contribuya a resultados favorables para los pacientes pediátricos.

Congenital vascular malformations most frequently affect the integumentary system and become evident at birth or in the first weeks of life with an estimated prevalence of 4.5%. Lymphatic anomalies usually have a variable presentation, and in most cases their management becomes a challenge. Its global incidence is estimated to range between 1 in 2,000 and 1 in 16,0004.5 cases. Objective: Determine the importance of adequate management by vascular surgery in the context of a pediatric patient with Lymphangioma in the lower limb using the presentation of a clinical case as a methodology. Description of the case: A 7-month-old patient with no clinical or surgical history of interest, who was brought by his mother to a vascular surgery consultation due to the presence of a mass in the right lower limb that has progressively shown growth, a condition that is accompanied by swelling in the soft tissues and friction or pain upon distension in the area of the malformation, according to the classification of Mulliken and Glowacki, it is concluded that it is a Lymphangioma, a diagnosis that was confirmed by Doppler ultrasonography, Angiotac and ascending phlebography. For its management, ultrasound-guided percutaneous drainage and sclerotherapy using 1% polidocanol foam was performed to seal the vascular malformation, obtaining clinical improvement with satisfactory aesthetic and functional results. Conclusion: Lymphangioma is a rare vascular malformation that has not been documented locally, therefore, the presentation of this case aimed to provide updated scientific information on the treatment of vascular pathology and advocate management based on existing medical evidence. that contributes to favorable outcomes for pediatric patients.

As malformações vasculares congênitas afetam mais frequentemente o sistema tegumentar e tornam-se evidentes ao nascimento ou nas primeiras semanas de vida, com prevalência estimada em 4,5%. As anomalias linfáticas costumam ter apresentação variável e na maioria dos casos seu manejo torna-se um desafio. Estima-se que sua incidência global varie entre 1 em 2.000 e 1 em 16.0004,5 casos. Objetivo: Determinar a importância do manejo adequado por cirurgia vascular no contexto de um paciente pediátrico com Linfangioma em membro inferior utilizando como metodologia a apresentação de um caso clínico. Descrição do caso: Paciente de 7 meses, sem antecedentes clínicos ou cirúrgicos de interesse, que foi trazido pela mãe à consulta de cirurgia vascular devido à presença de uma massa no membro inferior direito que apresentava crescimento progressivo, quadro que vem acompanhado de inchaço nos tecidos moles e fricção ou dor à distensão na área da malformação, segundo a classificação de Mulliken e Glowacki, conclui-se que se trata de um Linfangioma, diagnóstico que foi confirmado por Ultrassonografia Doppler, Angiotac e flebografia ascendente. Para seu manejo foi realizada drenagem percutânea guiada por ultrassom e escleroterapia com espuma de polidocanol a 1% para selar a malformação vascular, obtendo melhora clínica com resultados estéticos e funcionais satisfatórios. Conclusão: O linfangioma é uma malformação vascular rara e não documentada localmente, portanto, a apresentação deste caso teve como objetivo fornecer informação científica atualizada sobre o tratamento da patologia vascular e defender uma gestão baseada na evidência médica existente que contribua para resultados favoráveis para a pediatria. pacientes.

Malformaciones congénitas diagnosticadas en el servicio de medicina materno fetal de la Maternidad Concepción Palacios / Congenital malformations diagnosed in the maternal fetal medicine service of the Maternidad Concepción Palacios

Objetivo: Identificar y clasificar las diferentes anomalías del desarrollo diagnosticadas en la unidad de ecografía del servicio de medicina materno fetal de la Maternidad Concepción Palacios entre enero y diciembre de 2023. Métodos: Estudio retrospectivo, descriptivo, transversal que incluyó la evaluación de los 4225 reportes de ultrasonido obstétrico realizados en 2023. Se excluyeron los estudios sin diagnóstico morfológico. Las variables evaluadas fueron características clínicas de las gestantes, prevalencia según tipo de anomalía del desarrollo y según el aparato o sistema afectado. Resultados: Se diagnosticaron anomalías del desarrollo en 282 pacientes, para una frecuencia de 6,7 %. Las anomalías fueron únicas en 187 casos (66,3 %) y múltiples en 95 pacientes (33,7 %). El total de malformaciones fue 360 (8,5 %). El mínimo de lesiones detectadas fue una y el máximo fue tres. El sistema afectado con mayor frecuencia fue el sistema nervioso central, con 104 casos (28,9 %); le siguen, en orden de frecuencia, los marcadores aislados, vistos en 92 pacientes (25,6 %) y las anomalías cardiovasculares, en 49 fetos (13,6 %). Conclusión: La frecuencia de malformaciones congénitas diagnosticadas en el año 2023 fue de 6,7 % de las ecografías realizadas en la unidad de ecografía del servicio de medicina materno fetal de la Maternidad Concepción Palacios; en las dos terceras partes de los casos fueron únicas y el tercio restante fueron múltiples. En orden de frecuencia, los sistemas afectados fueron sistema nervioso central, marcadores aislados de aneuploidías y anomalías cardiovasculares(AU)

Objective: To identify and classify the different developmental anomalies diagnosed in the ultrasound unit of the maternal-fetal medicine service of the Concepción Palacios Maternity Hospital between January and December 2023. Methods: Retrospective, descriptive, cross-sectional study that included the evaluation of the 4225 obstetric ultrasound reports performed in 2023. Studies without morphological diagnosis were excluded. The variables evaluated were clinical characteristics of the pregnant women, prevalence according to type of developmental anomaly and according to the affected apparatus or system. Results: Developmental abnormalities were diagnosed in 282 patients, with a frequency of 6.7%. The anomalies were single in 187 cases (66.3%) and multiple in 95 patients (33.7%). The total number of malformations was 360 (8.5%). The minimum number of injuries detected was one and the maximum was three. The most frequently affected system was the central nervous system, with 104 cases (28.9%); This is followed by isolated markers, seen in 92 patients (25.6%), and cardiovascular anomalies, in 49 fetuses (13.6%). Conclusion: The frequency of congenital malformations diagnosed in 2023 was 6.7% of the ultrasound scans performed in the ultrasound unit of the maternal-fetal medicine service of the Concepción Palacios Maternity Hospital; Two-thirds of the cases were singles and the remaining third were multiples. In order of frequency, the affected systems were central nervous system, isolated markers of aneuploidies, and cardiac anomalies(AU)

The role of coronary artery reimplantation for anomalous right coronary artery originating from the opposite sinus of Valsalva: preliminary outcomes and insights from a Latin American country.

Despite promising results, reimplantation appears to have fallen into oblivion among the multiple possible approaches for repairing anomalous coronary arteries. We describe the outcomes of 12 patients with an anomalous right coronary artery originating from the opposite sinus of Valsalva with an interarterial course who were surgically treated with this technique between 2018 and 2023 in 2 institutions in Bogota, Colombia. We provide preliminary evidence of the value reimplantation as a more than suitable technique, particularly in resource-constrained settings. It offers high rates of control of symptoms and functional class recovery while assessing all potential high-risk features, with a low risk of complications, even in middle-aged patients. We also advocate using noninvasive anatomical descriptions and patient symptoms over inducible ischaemia tests in decision making.

Ponytail Left Anterior Descending Artery: A Case Report.

Division of the anterior descending branch into many small arteries is a rare coronary anomaly. We report the case of a 64-year-old female with severe stenosis (>75%) in the proximal region of the anterior descending branch as indicated by coronary computed tomography angiography (CCTA). In addition, coronary angiography showed that the anterior descending branch of the coronary artery split into numerous small arteries, an anomaly that can confound clinical examination.

Aquatic therapy in congenital malformation during the use of external fixator for bone lengthening: It is possible?

OBJECTIVES: The objective of this study is to describe the rehabilitation of individuals with Congenital Malformations (CMF) during the use of an External Fixator (EF) in Aquatic Therapy (AT) and to analyze the association between diagnosis, EF type and location with rehabilitation process outcomes, surgical intervention, and adverse effects. METHODS: This retrospective study included 29 medical records from which the personal and rehabilitation data of the patient were collected. The AT used was described and the outcome variables were associated. The medical records were selected by screening the database of the CMF clinic at the AACD. The inclusion criteria were participants with CMF who used EF treated between 2011 and 2019 of both genders and without age restriction. The exclusion criteria were incomplete medical record data or not undergoing AT while using EF. The extracted data included diagnosis, gender, age, EF type and location, objective of the surgery, adverse events, surgical interventions, time of rehabilitation in AT, physiotherapeutic objectives, and rehabilitation process outcomes in AT. RESULTS: The mean age of the participants was 12.1 ± 3.99 years, with male predominance (55 %) and hemimelia cases (37 %). The most used EF was circular (51 %), located in the femur (37 %), and the main objective of surgery was bone lengthening (52 %). The most recurrent adverse effect was infection (62 %) and 76 % completed AT. There was no association between the variables analyzed. CONCLUSIONS: It was possible to describe CMF rehabilitation with EF in AT. There was no association between the variables analyzed.

Prune-Belly Syndrome: An Update.

The Prune-Belly (Eagle-Barrett) syndrome (PBS) is a congenital and genetically heterogeneous disease, more prevalent in males, defined by the clinical triad (1) deficiency of abdominal muscles, (2) bilateral cryptorchidism, and (3) urinary tract abnormalities. The abdomen of an infant with PBS has a typical appearance, similar to the aspect of a prune, which gives it its name. Although the etiology of this disorder is still unknown, numerous theories, mutations, and genetic disturbances have been proposed to explain the origin of PBS. Prognosis can differ a lot from one patient to another, since this condition has a wide spectrum of clinical presentation. Despite being a rare condition, the importance of PBS should not be underestimated, in the light of the potential of the disorder to lead to chronic kidney disease and other severe complications. In that regard, this review gathers the most up-to-date knowledge about the etiopathogenesis, clinical features, diagnosis, management and prognosis of PBS.

A Neoponera villosa (Fabricius, 1804) Worker Pupa with too Many Legs (Hymenoptera: Formicidae).

Several somatic and sexual anomalies such as gynandromorphism and other morphological malformations have been described in ants, but cases of supernumerary legs in natural populations are rare, with only six cases reported to date. Moreover, few cases of abnormalities have been reported for the Ponerinae subfamily, with only three cases of genetic chimeras and five teratological cases worldwide. We report here a new case of teratology in this subfamily, with a seven-legged worker pupa found in a Neoponera villosa colony nesting in an epiphytic tank bromeliad. This is the second case for Mexico of a morphological anomaly in a ponerine ant, but the first report of a teratological case in the subfamily for this country.

Long-Term Outcomes, Including Fetal and Neonatal Prognosis, of Renal Oligohydramnios: A Retrospective Study over 22 Years.

OBJECTIVE: To assess the long-term outcome of renal oligohydramnios and risk factors for fetal, neonatal, and postneonatal death. STUDY DESIGN: This retrospective cohort study included fetuses with prenatally detected renal oligohydramnios between 2002 and 2023. Patients who were lost to follow-up were excluded. Fetal, neonatal, and long-term outcomes were evaluated, and their risk factors were analyzed. RESULTS: Of 131 fetuses with renal oligohydramnios, 46 (35%) underwent a termination of pregnancy, 11 (8%) had an intrauterine fetal death, 26 (20%) had a neonatal death, nine (7%) had a postneonatal death, and 39 (30%) survived. Logistic regression analyses showed that an earlier gestational age at onset (OR 1.16, 95% CI 1.01-1.37) was significantly associated with intrauterine fetal death; anhydramnios (OR 12.7, 95% CI 1.52-106.7) was significantly associated with neonatal death as a prenatal factor. Although neonatal survival rates for bilateral renal agenesis, bilateral multicystic dysplastic kidney (MCDK), and unilateral MCDK with contralateral renal agenesis were lower than for other kidney diseases, 1 case of bilateral renal agenesis and two of bilateral MCDK survived with fetal intervention. Kaplan-Meier overall survival rates were 57%, 55%, and 51% for 1, 3, and 5 years, respectively. In the Cox proportional hazards model, birth weight <2000 g (hazard ratio 7.33, 95% CI 1.48-36.1) and gastrointestinal comorbidity (hazard ratio 4.37, 95% CI 1.03-18.5) were significant risk factors for postneonatal death. CONCLUSION: Long-term survival following renal oligohydramnios is a feasible goal and its appropriate risk assessment is important.

Prevalence of congenital anomalies and prenatal diagnosis by birth institution (public vs. non-public): indicators of inequality in access to elective termination of pregnancy for fetal anomalies.

Congenital anomalies (CA) encompass all morphological or functional alterations originating prenatally and present at birth. The prenatal diagnosis of these anomalies can significantly impact the overall health of the pregnant individual and may influence her decision regarding the continuation of the pregnancy. In contexts where safe pregnancy termination is not guaranteed by the state, it can lead to unsafe procedures with severe consequences. In our research, we analyzed epidemiological information on CA to develop potential indicators of inequity in access to safe abortion prior to the legalization of legal termination of pregnancy in Argentina. We included cases from 13 public hospitals and 9 non-public subsector hospitals, from the period 2013-2020. Two groups of specific CA were selected: 1) CA capable of being prenatally diagnosed, and 2) CA related to vascular disruptive events. 10/18 of the selected CA capable of being prenatally diagnosed had a significantly higher prevalence in public hospitals (anencephaly, encephalocele, spina bifida, microcephaly, hydrocephalus, holoprosencephaly, hydranencephaly, diaphragmatic hernia, gastroschisis, bilateral renal agenesis). Non public hospitals had higher prenatal detection. Birth prevalence of CA related with vascular disruptive events (limb reduction, Moebius syndrome, amniotic band sequence) were significantly higher in public hospitals. These results suggest disparities in access to prenatal diagnosis and safe abortion based on socioeconomic status. There was a significant gap in access to prenatal diagnosis for CA and possibly to safe elective abortion depending on the type of institution (public vs. non-public).

Congenital anomalies in Santa Catarina, Southern Brazil: macroregional and temporal birth prevalence for the period 2011-2020.

Congenital anomalies (CAs) are an important cause of infant mortality and efficient surveillance is necessary for their prevention. Therefore, the objective of this study is to establish baselines of prevalence at birth of priority CAs for surveillance in the state of Santa Catarina, using data from the Live Birth Information System considering the period 2011-2019 (baseline) and 2020 (pandemic year). The analyses were carried out based on the mother's residence health macroregion. The CAs were selected following the ICD-10 coding for chapter XVII. Birth prevalence was calculated per 10,000 live births and the confidence interval was established at 95%. 2011-2019 recorded 88.8/10,000 births with CAs (total). For 2011-2019, limb defects (without polydactyly) were the most prevalent (14.1/10,000), followed by congenital heart defects (8.9), oral clefts (8.2), polydactyly (7.9), Down syndrome (5.6), hypospadias (5.4), neural tube defects (4.7), gastroschisis (3.3), undefined sex (1.2), microcephaly (0.8) and omphalocele (0.3). There were no significant differences in temporal and spatial distribution. However, unusual fluctuations were observed in 2020, which may reflect the pandemic in CAs notifications. In the base period, Santa Catarina recorded CAs below the expected level of being identified at birth. With this, we conclude that the training and awareness of teams are essential for the surveillance of CAs in Santa Catarina.

Expansión Rápida del Maxilar: Revisión actualizada de las técnicas disponibles / Rapid Maxillary Expansion: Updated Review of Available Techniques

La deficiencia transversal del maxilar es una anomalía dentomaxilar capaz de producir problemas funcionales en la oclusión, respiración y estéticos. Su presentación clínica tradicional es la mordida cruzada posterior y una alteración en la relación transversal intermaxilar, la cual impide la correcta erupción de las piezas dentarias. Su manejo corresponde a la expansión rápida del maxilar, la cual puede ser asistida mediante mini-implantes (MARPE), cirugía (SARPE) o una combinación de ambas técnicas (MISMARPE). El objetivo del presente artículo es presentar un contraste entre las técnicas empleadas en la expansión rápida del maxilar, para simplificar la toma de decisiones clínicas. Se elaboró una revisión narrativa en las bases de datos PubMed, Scopus y Epistemonikos contemplando revisiones sistemáticas, metaanálisis, ensayos clínicos aleatorizados y estudios observacionales publicados entre el año 2013 a 2023. Un total de 23 artículos fueron incluidos, los cuales cumplían con los criterios de inclusión y exclusión establecidos. El manejo clínico de la deficiencia transversal del maxilar frecuentemente requiere un abordaje interdisciplinario combinando un enfoque ortopédico y quirúrgico. Según lo encontrado en la actual revisión, tanto el MARPE, SARPE y MISMARPE reportan indicaciones y limitaciones, así como complicaciones asociadas, sin embargo, serían efectivas en la resolución de deficiencias transversales. Se recomienda al clínico considerar dicha información de acuerdo a las necesidades particulares de cada caso clínico, así como profundizar y prolongar el estudio de nuevas técnicas para analizar su estabilidad a largo plazo en comparación a las otras corrientes terapéuticas.

The transverse deficiency of the maxilla is a dentomaxillary anomaly capable of producing functional problems in occlusion, respiration and esthetics. Its traditional clinical presentation is dental crowding, which obstructs the correct eruption of the teeth. Its management corresponds to rapid maxillary expansion, which can be assisted by means of mini-implants (MARPE), surgery (SARPE) or a combination of both techniques (MISMARPE). The objective of this article is to present a contrast between the techniques used in rapid maxillary expansion to simplify clinical decision making. A narrative review was performed in PubMed, Scopus and Epistemonikos databases, including systematic reviews, meta-analyses, randomized clinical trials and observational studies published between 2013 and 2023. A total of 23 articles were included, which met the established inclusion and exclusion criteria. The clinical management of transverse deficiency of the maxilla frequently requires an interdisciplinary management, combining an orthopedic and surgical approach. As found in the current review, all techniques; MARPE, SARPE and MISMARPE, report indications and limitations, as well as associated complications. It is recommended to deepen and prolong the study of new techniques in order to analyze their long-term stability in comparison to other therapeutic currents.

High percentage of midpiece defects in Brangus bull sperm with no reduction in sperm kinematics.

The study investigated midpiece defects in sperm from a 5-year-old Brangus bull with a high rate of semen batch rejection, due to morphologically abnormal sperm, with no reduction in sperm kinematics. A comprehensive evaluation was conducted over a 16-month period, involving 28 ejaculates. Notably, despite the high proportion of midpiece defects (average 37.73%, from 3% to 58%), the study revealed stable sperm production, with no discernible differences in the kinematic data before and after cryopreservation. Electron microscopy identified discontinuities in the mitochondrial sheath, characteristic of midpiece aplasia (MPA). The anomalies were attributed to be of genetic origin, as other predisposing factors were absent. Additionally, the electron microscopy unveiled plasma membrane defects, vacuoles and chromatin decondensation, consistent with previous findings linking acrosome abnormalities with midpiece defects. The findings underscored the necessity of conducting thorough laboratory evaluations before releasing cryopreserved semen for commercialization. Despite substantial morphological alterations, the initial semen evaluation data indicated acceptable levels of sperm kinematics, emphasizing the resilience of sperm production to severe morphological changes. This case report serves as a contribution to the understanding of midpiece defects in bull sperm, emphasizing the need for meticulous evaluation and quality control in semen processing and commercialization.

Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome.

OBJECTIVE: To develop consensus on diagnostic criteria for LUMBAR syndrome, the association of segmental infantile hemangiomas that affect the Lower body with Urogenital anomalies, Ulceration, spinal cord Malformations, Bony defects, Anorectal malformations, Arterial anomalies and/or Renal anomalies. STUDY DESIGN: These diagnostic criteria were developed by an expert multidisciplinary and multi-institutional team based on analysis of peer-reviewed data, followed by electronic-Delphi consensus of a panel of 61 international pediatric specialists. RESULTS: After 2 Delphi rounds, a 92% or higher level of agreement was reached for each Delphi statement. 98% of panelists agreed with the diagnostic criteria, and 100% agreed the criteria would be useful in clinical practice. The diagnosis of LUMBAR requires the presence of a segmental, or patterned, infantile hemangioma of the lumbosacral, sacrococcygeal, or pelvic cutaneous regions plus one additional criterion of the urogenital, spinal, bony, anorectal, arterial, or renal organ systems. CONCLUSIONS: These diagnostic criteria will enhance clinical care by improving screening, detection, and overall awareness of this poorly understood neurocutaneous disorder. The criteria can be utilized by a wide variety of pediatric subspecialists. In addition, formal criteria will improve phenotypic uniformity among LUMBAR syndrome cohorts and a patient registry, allowing investigators to assess clinical features, long-term outcomes, and results of genetic sequencing in a standardized manner. Finally, these criteria will serve as a starting point for prospective studies to establish formal screening and management guidelines.

Isolated Hydronephrosis and Urinary Tract Infection by Two Years of Age: A Population-Based Study.

OBJECTIVE: To evaluate the risk for urinary tract infection (UTI) in infants with isolated hydronephrosis (IH). STUDY DESIGN: A retrospective, population-based study including all infants insured by Clalit Health Services and followed from birth to age 2 years in 3 regions of central Israel. Infants were divided into 3 groups based on electronic medical record diagnoses by age 6 months: (1) control: no urological diagnosis; (2) IH; and (3) complicated urological diagnosis (CUD): any additional nephrological/urological diagnosis with/without HN. The primary outcome was a diagnosis of UTI in the first 2 years of life. RESULTS: The cohort included 340 619 infants (52% male): 333 920 controls, 4369 with IH, and 2331 with CUD. Infants with IH were associated with a greater risk for UTI than control patients (17% vs 4%, P < .001). UTI risk for a male infant with IH was greater than for a female infant in the control group (12.6% vs 6.5%, P < .001). In a multivariable logistic regression analysis, both IH (OR 7.04; 95% CI 6.46-7.66) and CUD (OR 14.9; 95% CI 13.6-16.4) were independently associated with UTI. CONCLUSION: Infants with IH are at a greater risk for UTI in the first 2 years of life, supporting the recommendation for a high index of suspicion for UTI in this population.

Agenesis of the gallbladder: A multicenter case series and review of the bibliography. / Agenesia de la vesícula biliar: una serie de casos multicéntrica y revisión de la literatura.

Gallbladder agenesis is a rare condition in pediatrics that is usually asymptomatic and represents a diagnostic challenge for physicians seeing these cases for the first time. Some patients may, however, present with symptoms that mimic other diseases of the bile ducts, and many of them undergo surgery due to such suspicion. Still, a timely diagnosis of gallbladder agenesis allows for medical treatment that is often sufficient to resolve the patient's problem. Although it is a benign condition, patients often present with other associated, more serious malformations and should be actively studied for a timely referral to other specialists. Here we describe our experience with the diagnosis and treatment of these patients and a brief review of the bibliography. We hope it will be helpful for physicians facing similar cases.

La agenesia de la vesícula biliar es una entidad rara en pediatría con una evolución normalmente silente, y representa un desafío diagnóstico para el médico que enfrenta estos casos por primera vez. Algunos pacientes pueden, sin embargo, presentar síntomas que simulan otras patologías del árbol biliar, y muchos de ellos son operados ante esta sospecha. Sin embargo, el diagnóstico oportuno de esta entidad permite llevar a cabo un tratamiento médico que muchas veces es suficiente para resolver el problema del paciente. Si bien es una condición benigna, los pacientes suelen presentar otras malformaciones asociadas que son más graves en naturaleza y que deben investigarse activamente para poder derivarlos a los especialistas de manera oportuna. Presentamos nuestra experiencia en el diagnóstico y tratamiento de estos pacientes, así como una breve revisión de la literatura. Esperamos que sea de utilidad para el médico que encuentre un caso similar.

Four-month-old with severe PIK3CA-related overgrowth spectrum disorder successfully treated with alpelisb.

PIK3CA-related overgrowth spectrum (PROS) encompasses different clinical entities caused by somatic activating mutations in PIK3CA. Among PROS, CLOVES syndrome represents a severe phenotype with poor survival rate. We present the case of a 4-month-old girl with CLOVES syndrome successfully treated with alpelisib, a PIKC3A inhibitor.

A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD.

Chromosomal microarray (CMA) is the reference in evaluation of copy number variations (CNVs) in individuals with neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and/or autism spectrum disorder (ASD), which affect around 3-4% of the world's population. Modern platforms for CMA, also include probes for single nucleotide polymorphisms (SNPs) that detect homozygous regions in the genome, such as long contiguous stretches of homozygosity (LCSH). These regions result from complete or segmental chromosomal homozygosis and may be indicative of uniparental disomy (UPD), inbreeding, population characteristics, as well as replicative DNA repair events. In this retrospective study, we analyzed CMA reading files requested by geneticists and neurologists for diagnostic purposes along with available clinical data. Our objectives were interpreting CNVs and assess the frequencies and implications of LCSH detected by Affymetrix CytoScan HD (41%) or 750K (59%) platforms in 1012 patients from the south of Brazil. The patients were mainly children with NDDs and/or congenital anomalies (CAs). A total of 206 CNVs, comprising 132 deletions and 74 duplications, interpreted as pathogenic, were found in 17% of the patients in the cohort and across all chromosomes. Additionally, 12% presented rare variants of uncertain clinical significance, including LPCNVs, as the only clinically relevant CNV. Within the realm of NDDs, ASD carries a particular importance, owing to its escalating prevalence and its growing repercussions for individuals, families, and communities. ASD was one clinical phenotype, if not the main reason for referral to testing, for about one-third of the cohort, and these patients were further analyzed as a sub-cohort. Considering only the patients with ASD, the diagnostic rate was 10%, within the range reported in the literature (8-21%). It was higher (16%) when associated with dysmorphic features and lower (7%) for "isolated" ASD (without ID and without dysmorphic features). In 953 CMAs of the whole cohort, LCSH (≥ 3 Mbp) were analyzed not only for their potential pathogenic significance but were also explored to identify common LCSH in the South Brazilians population. CMA revealed at least one LCSH in 91% of the patients. For about 11.5% of patients, the LCSH suggested consanguinity from the first to the fifth degree, with a greater probability of clinical impact, and in 2.8%, they revealed a putative UPD. LCSH found at a frequency of 5% or more were considered common LCSH in the general population, allowing us to delineate 10 regions as potentially representing ancestral haplotypes of neglectable clinical significance. The main referrals for CMA were developmental delay (56%), ID (33%), ASD (33%) and syndromic features (56%). Some phenotypes in this population may be predictive of a higher probability of indicating a carrier of a pathogenic CNV. Here, we present the largest report of CMA data in a cohort with NDDs and/or CAs from the South of Brazil. We characterize the rare CNVs found along with the main phenotypes presented by each patient and show the importance and usefulness of LCSH interpretation in CMA results that incorporate SNPs, as well as we illustrate the value of CMA to investigate CNV in ASD.