Manejo de la hemorragia posparto en una paciente con útero bicorne con la sutura B-Lynch. Reporte de caso y revisión de la literatura / Management of postpartum hemorrhage in a patient with bicornuate uterus using the B-Lynch suture. Case report and review of the literature

Objetivos: Describir un caso de manejo con sutura de B-Lynch en una mujer con útero bicorne que presenta hemorragia posparto (HPP), y realizar una revisión de la literatura acerca de las estrategias de control quirúrgico de la HPP en pacientes con malformaciones müllerianas, los resultados maternos en términos de control de la hemorragia, así como las complicaciones tempranas y tardías. Materiales y métodos: Se reporta el caso de una paciente con útero bicorne, atendida en un hopsital de referencia regional, que, posterior a parto por cesárea, presenta hemorragia posparto, la cual es controlada con éxito empleando la sutura de B-Lynch. Se realizó una búsqueda en las siguientes bases de datos: PubMed, Embase, Medline, Google Scholar y LILACS. Se emplearon los términos MeSh: "Uterine Atony", "Postpartum Hemorrhage", "Immediate Postpartum Hemorrhage", "Bicornuate Uterus", "Mullerian Anomalies", "Mullerian Ducts Abnormalities", "Uterine Compression Suture". Se incluyeron reportes y series de casos que hubieran incluido pacientes con malformaciones müllerianas con HPP que no respondieran al manejo farmacológico inicial, con uso de procedimientos quirúrgicos conservadores para el control de la hemorragia. Se hace análisis narrativo de los hallazgos respecto a las características de los estudios, técnicas utilizadas y complicaciones. Resultados: Se seleccionaron 5 estudios, 4 de tipo reporte de caso y 1 serie de casos, que corresponden a 12 mujeres con malformación uterina que desarrollaron HPP, en las cuales se empleó manejo quirúrgico (suturas de compresión uterina), y con dispositivo (tipo balón intrauterino) para el control de la hemorragia, logrando controlar el sangrado en 11 casos, solo una (8,3 %) requirió histerectomía. No se reportan complicaciones a largo plazo. Conclusiones: El manejo de la HPP en mujeres con malformaciones uterinas müllerianas cuenta con una literatura limitada a reportes de casos, con uso tanto de suturas compresivas como dispositivos médicos tipo balones intrauterinos. La sutura compresiva tipo B-Lynch parece ser una buena alternativa en el control de la HPP en estas mujeres con el fin de preservar la fertilidad, con baja tasa de complicaciones. Se requiere continuar documentando este tipo de casos con el fin de consolidar evidencia de la utilidad de esta técnica en el control del sangrado uterino posparto en esta población.

Objectives: To describe the use of the B-Lynch suture in a case of postpartum hemorrhage of a woman with bicornuate uterus, and to carry out a review of the literature on PPH control strategies in patients with müllerian anomalies, maternal outcomes in terms of hemorrhage control, as well as early and late complications. Material and methods: Case report of a patient with bicornuate uterus who presented to a regional referral hospital with postpartum hemorrhage following a cesarean section, which was successfully controlled using the B-Lynch suture. A search was conducted in the PubMed, Embase, Medline, Google Scholar and LILACS databases. The MeSh terms used were: "Uterine Atony," "Postpartum Hemorrhage," "Immediate Postpartum Hemorrhage," "Bicornuate Uterus," "Müllerian Anomalies," "Müllerian Duct Abnormalities". Case reports and case series of patients with müllerian malformations and PPH not responding to initial pharmacological management in whom conservative surgical procedures were used to control bleeding were included. A narrative analysis of the findings was carried out based on study characteristics, techniques used and complications. Results: Five studies were selected, 4 case reports and 1 case series which included 12 women with uterine malformations who developed PPH and in whom surgical management (uterine compression sutures) or devices (intrauterine balloon) were used for hemorrhage control. Bleeding was successfully controlled in 11 cases, with hysterectomy required only in one case (8.3 %). No long-term complications were reported. Conclusions: The literature on PPH management in women with müllerian uterine malformations is limited to case reports in which either compression sutures or medical devices such as intrauterine balloons were used. The B-Lynch-type compression suture appears to be a good option for controlling PPH in these women in order to preserve fertility, with a low rate of complications. Further documentation of these types of cases is needed in order to build the evidence regarding the usefulness of this technique for controlling postpartum uterine bleeding in this population.

Duplicidad intestinal con diagnóstico ecográfico. Presentación de un caso

La duplicación intestinal es una afección poco frecuente que se diagnostica y resuelve durante los dos primeros años de vida. Pueden ser diverticulares, quísticas o tubulares, comunicadas y no comunicadas. Los síntomas varían con el tipo, tamaño, localización y mucosa que los tapiza. Este trabajo tiene como objetivo presentar el caso de una paciente pediátrica con diagnóstico de duplicidad intestinal ileal, en que las pruebas de imagen aportaron al diagnóstico definitivo. Se trata de una paciente femenina de 16 meses, que presentó dolor abdominal tipo cólico difuso, intermitente, heces sanguinolentas, distención abdominal e irritabilidad. En radiografía de abdomen simple se evidenció distensión de asas intestinales como niveles hidroaéreos y presencia de gas en recto. En ultrasonido se constató imagen quística hacia hipocondrio derecho, en íntimo contacto con asa intestinal adyacente, signo de la doble pared y nivel líquido-líquido. Se sugirió el diagnóstico de duplicidad intestinal ileal, que fue confirmado con biopsia, posterior a cirugía realizada. Es la ecografía la prueba de primera opción en el diagnóstico de esta afección. Muestra el signo de la doble pared con una capa ecogénica interna (epitelio) y una capa hipoecogénica externa que corresponde a las capas musculares. Los métodos de estudios imagenológicos son de vital importancia para su diagnóstico, es el ultrasonido abdominal quien proporciona un diagnóstico certero, siendo inocuo para el paciente.

Intestinal duplication is a rare condition that is diagnosed and resolves within the first two years of life. They can be diverticular, cystic or tubular, communicating and non-communicating. The symptoms vary with the type, size, location and mucosa that covers them. This research aims to present the case of a pediatric patient diagnosed with ileal intestinal duplication, in which imaging tests contributed to the definitive diagnosis. This is a 16-month-old female patient who presented with diffuse, intermittent colicky abdominal pain, bloody stools, abdominal distention, and irritability. A simple abdominal X-ray revealed distention of the intestinal loops, such as air-fluid levels and the presence of gas in the rectum. Ultrasound revealed a cystic image towards the right hypochondrium, in close contact with the adjacent intestinal loop, double wall sign and fluid-fluid level. The diagnosis of ileal intestinal duplication was suggested, which was confirmed with a biopsy after surgery. Ultrasound is the test of first choice in the diagnosis of this condition. It shows the double wall sign with an inner echogenic layer (epithelium) and an outer hypoechoic layer corresponding to the muscle layers. The methods of imaging studies are of vital importance for its diagnosis, it is the abdominal ultrasound that provides an accurate diagnosis, being harmless for the patient.

Holoprosencephaly in Patau Syndrome / Holoprosencefalia na Síndrome de Patau

ABSTRACT Objective: To evaluate radiological (gestational and perinatal) and neonatal signs of patients with Patau syndrome and semilobar holoprosencephaly, as well as to report the association of both pathologies. Case description: This case report is about a female infant, born at term with trisomy of the chromosome 13 and semilobar holoprosencephaly, with thalamic fusion and a single cerebral ventricle, in addition to several other changes that worsened the patient's prognosis. Comments: Chromosome 13 trisomy is a genetic alteration that leads to the symptoms that determines Patau syndrome. In this syndrome, cardiovascular, urogenital, central nervous system, facial structure and intellectual impairment are common, in addition to problems in limb formation, such as decreased humerus and femur length, polydactyly, hypotelorism and low ear implantation. It is estimated, however, that holoprosencephaly is present in only 24 to 45% of the patients with trisomy 13.

RESUMO Objetivo: Avaliar sinais radiológicos (gestacionais e perinatais) e neonatais de paciente com síndrome de Patau e holoprosencefalia semilobar, assim como relatar a associação de ambas as patologias. Descrição do caso: Trata-se de um relato de recém-nascido do sexo feminino a termo, que apresentou trissomia do cromossomo 13 e holoprosencefalia semilobar, com fusão talâmica e ventrículo cerebral único, além de várias outras alterações que pioraram o prognóstico da paciente. Comentários: A trissomia do cromossomo 13 é um defeito genético que caracteriza um conjunto de sintomas que compõem a Síndrome de Patau. Nesta síndrome, é comum o acometimento cardiovascular, urogenital, do sistema nervoso central, da estrutura facial e da capacidade intelectual, além de falhas na formação dos membros, como diminuição no comprimento do úmero, fêmur, polidactilia, hipotelorismo e baixa implantação das orelhas. Estima-se, no entanto, que a holoprosencefalia apresente-se nesse grupo de malformações congênitas apenas em 24 a 45% dos casos.

Duplicidad intestinal y diagnóstico diferencial prenatal de lesiones quísticas intraabdominales / Intestinal duplication and prenatal differential diagnosis of intra-abdominal cysts

Resumen ANTECEDENTES: Las duplicaciones del aparato digestivo son una variante poco frecuente de malformación congénita. Si bien la mejora de los equipos de ecografía ha aumentado la tasa diagnóstica, solo el 30% se diagnostican antes del nacimiento. El diagnóstico diferencial de lesiones quísticas intraabdominales es amplio e incluye, por ejemplo, a los quistes de ovario, colédoco, mesenterio o pseudoquistes de meconio. El tratamiento es quirúrgico mediante la resección y restauración de la continuidad intestinal. CASO CLÍNICO: Paciente de 32 años, con un embarazo previo y en el segundo trimestre del actual, con sospecha de un quiste de duplicación intestinal. El estudio genético no evidenció anomalía alguna. La lesión, de morfología quística tubular, fue aumentando progresivamente de tamaño conforme avanzaban las semanas de embarazo. En la semana 39 se indicó, por diabetes gestacional insulinodependiente, la inducción del parto. Nació un varón, asintomático, mediante parto eutócico, sin complicaciones. La ecografía abdominal, resonancia magnética nuclear y estudio del tránsito intestinal del periodo neonatal temprano confirmó el diagnóstico prenatal de sospecha. Mediante una laparoscopia exploradora, a las dos semanas de vida se practicó la resección del defecto que se reportó como: duplicación intestinal ileal, sin comunicación con la luz intestinal. El curso posoperatorio fue favorable. CONCLUSIONES: El diagnóstico prenatal de quistes de duplicación en el aparato digestivo está en aumento debido a la mejoría en las técnicas de diagnóstico prenatal. La valoración multidisciplinaria es decisiva para procurar una adecuada vigilancia médica del embarazo y del recién nacido.

Abstract BACKGROUND: Duplications of the digestive tract are a rare variant of congenital malformation that can occur anywhere in the digestive tract. Although improved ultrasound equipment has increased the diagnostic rate, only 30% are diagnosed before birth. The differential diagnosis of intra-abdominal cystic lesions is broad and includes, for example, cysts of the ovary, common bile duct, mesentery or meconium pseudocysts. Treatment is surgical by resection and restoration of intestinal continuity. CLINICAL CASE: 32-year-old patient, with a previous pregnancy and in the second trimester of the current pregnancy, with suspicion of an intestinal duplication cyst. The genetic study did not reveal any abnormality. The lesion, of tubular cystic morphology, progressively increased in size as the weeks of pregnancy progressed. Induction of labour was indicated in week 39 due to insulin-dependent gestational diabetes. An asymptomatic male was born by euthecological delivery, without complications. Abdominal ultrasound, nuclear magnetic resonance imaging and intestinal transit study of the early neonatal period confirmed the suspected prenatal diagnosis. By means of exploratory laparoscopy, at two weeks of life, resection of the defect was performed, which was reported as: ileal intestinal duplication, without communication with the intestinal lumen. The postoperative course was favourable. CONCLUSIONS: Prenatal diagnosis of duplication cysts in the digestive tract is increasing due to improved prenatal diagnostic techniques. Multidisciplinary assessment is crucial to ensure adequate medical surveillance of the pregnancy and the newborn.

Prenatal phenotypic analysis and genetic counseling for 22q11.21 microdeletion and microduplication syndrome / 中华围产医学杂志

Objective:To analyze the prenatal clinical phenotypes and pregnancy outcomes of fetuses with 22q11.21 microdeletion and microduplication syndrome to provide a basis for clinical genetic counseling.Methods:This retrospective study involved the cases diagnosed with 22q11.21 microdeletion or microduplication by chromosomal microarray analysis (CMA) due to abnormal ultrasound findings, advanced maternal age, or high-risk pregnancies indicated by serum screening in the Prenatal Diagnosis Center of the First Affiliated Hospital of Air Force Medical University from January 2015 to January 2022. Clinical phenotypes and pregnancy outcomes of the fetuses were analyzed and described.Results:Among 9 141 cases referred for CMA during the study period, 77 cases (0.8%) were diagnosed as 22q11.21 microdeletion or microduplication, including 62 (80.5%) with 22q11.21 microdeletion and 15 (19.5%) with microduplication. In the 22q11.21 microdeletion cases, 58 had typical deletion, and four had atypical deletions, but all fetuses carried TBX1 gene that was clearly associated with congenital heart disease. The 15 fetuses with 22q11.21 microduplication including 14 in the typical region and one in the atypical region. Forty-eight (77.4%) out of the 62 fetuses with 22q11.21 microdeletion were complicated by congenital heart defects, including 28 with conotruncal defects. Five of the 15 fetuses with 22q11.21 microduplication were complicated by congenital heart defects. The cases were followed up on telephone at three to six months after the expected date of delivery. Among the 62 cases with 22q11.21 microdeletion, 52 terminated pregnancies, five were lost to follow-up, and five were delivered (one died after one month of premature delivery, one was born with anal advancement and growth retardation, and three were followed up without obvious abnormality). Among the 15 cases with 22q11.21 microduplication, four terminated pregnancies, two were lost to follow-up, and nine gave birth (eight were followed up without obvious abnormality, one grew slowly). Conclusions:The application of CMA in the prenatal diagnosis of 22q11.21 microdeletion and microduplication fetuses, and the comprehensive analysis of clinical manifestations and pregnancy outcome combined with ultrasonic diagnosis are of great significance in guiding the treatment and rehabilitation after birth of an affected child. Genetic counseling for cases with 22q11.21 microdeletion and microduplication syndrome should be cautious and consider ultrasound findings.

Prenatal diagnosis and genetic analysis of seven fetuses with 16p12.2 microdeletion or microduplication / 中华围产医学杂志

Objective:To investigate the prenatal ultrasonographic features and diagnosis of 16p12.2 copy number variation (CNV).Methods:This retrospective study recruited seven fetuses with 16p12.2 microdeletion/microduplication in the First Affiliated Hospital of Fujian Medical University from January 2017 to December 2021. Data, including the prenatal diagnostic indications, ultrasound findings, karyotypes, genetic testing and mutation tracing results, pregnancy outcomes, and postnatal follow-up data, were summarized with descriptive statistical analysis.Results:Prenatal ultrasound indicated three fetuses with structural abnormalities, including one case each of multiple malformations, interventricular septal defect, and cleft lip and palate. The other four cases were positive for ultrasonic soft markers involving the heart and kidney. The chromosome karyotypes of the seven fetuses were normal. Single nucleotide polymorphism array (SNP array) results showed that four cases had a 381.7-542.4 kb microdeletion containing three genes ( OTOA, METTL9, and IGSF6) in Online Mendelian Inheritance in Man (OMIM) at 16p12.2 (distal region) and three cases had a 484.0-701.7 kb microdeletion/microduplication containing four OMIM genes ( UQCRC2, CDR2, EEF2K, and POLR3E) at 16p12.2 (proximal region). Five (cases 1, 2, 4, 5, and 6) out of the seven fetuses inherited the variants from their phenotypically normal mother/father, and among them, three (cases 2, 4, and 5) were delivered at term and healthy. Two cases (cases 3 and 7) refused to undergo pedigree verification. Case 3, a full-term infant, underwent ventricular septal defect repair three months after birth, and no abnormality was found at 18 months of age. Conclusions:No specific phenotype presents in fetuses with 16p12.2 microdeletion/microduplication in prenatal diagnosis. OTOA gene is the key gene associated with abnormality in the distal region of 16p12.2. Pedigree analysis is conducive to preventing unnecessary termination of pregnancy.

Duplicación 10q23q24, un rearreglo cromosómico asociado a anomalías congénitas múltiples

La duplicación en el brazo largo del cromosoma 10 (10q) es una cromosomopatía poco frecuente caracterizada clínicamente por retraso en el crecimiento prenatal y postnatal asociado a hipotonía, retraso en el desarrollo y hallazgos faciales específicos; que representa un reto diagnóstico en el ámbito clínico. Se presenta el caso de una recién nacida remitida para valoración multidisciplinara al Hospital Universitario San Ignacio en Bogotá, Colombia; en quien se documentó al momento del nacimiento fisura de labio y paladar, hipertelorismo, pabellón auricular con implantación baja e hipertrofia de labios menores. Se realizó resonancia magnética cerebral, la cual reportó pequeños quistes connatales adyacentes a las astas frontales de los ventrículos laterales, sin significado patológico, aparente malrotación de ambos hipocampos, hipertelorismo y queilopalatosquisis bilateral. El reporte del cariotipo con bandeo G confirmó complemento cromosómico 46,XX,dup(10)(q23q24); siendo el primer caso reportado en Colombia.

Duplication on the long arm of chromosome 10 (10q) is a rare chromosomopathy characterized clinically by delayed prenatal and postnatal growth associated with hypotonia, delayed development, and specific facial findings, which represents a diagnostic challenge in the clinical setting. We present the case of a newborn referred for multidisciplinary evaluation at the Hospital Universitario San Ignacio in Bogotá, Colombia; in whom cleft lip and palate, hypertelorism, low-set auricle and hypertrophy of the labia minora were documented at birth. Magnetic resonance imaging of the brain was performed, which reported small connatal cysts adjacent to the frontal horns of the lateral ventricles, without pathological significance, apparent malrotation of both hippocampi, hypertelorism, and bilateral cheilopalatoschisis. The G-band karyotype report confirmed chromosomal complement 46, XX, dup (10) (q23q24); being the first reported case in Colombia.

Gene mutation analysis of a family with familial generalized lentiginosis / 中华皮肤科杂志

Objective:To analyze clinical and genetic characteristics of a family with familial generalized lentiginosis, and to identify the causative gene mutation.Methods:Clinical characteristics and inherited pattern were analyzed in a family with familial generalized lentiginosis. Peripheral blood samples were obtained from the proband, his affected father and healthy mother, and genomic DNA was extracted. PCR was performed to amplify all exons and their flanking sequences of the SASH1 gene, followed by DNA sequencing. The proband′s mother and 100 unrelated healthy controls served as controls to determine the mutation site. Previous literature and gene mutation databases were searched to rule out the possibility that the SASH1 gene mutations were single nucleotide polymorphisms, and to determine whether it was a known mutation.Results:A 4-generation family consisting of 17 members was investigated, and there were 9 patients in the family, including 7 males and 2 females. Patients existed in each generation, and the disease was inherited in an autosomal dominant manner in this family. Gene sequencing revealed a heterozygous duplication mutation c.49_54dupCCCGAG in exon 1 of the SASH1 gene in the proband and his father. This mutation was not found in his mother or healthy controls, and had not been reported in previous literature or gene mutation databases.Conclusion:The heterozygous duplication mutation c.49_54dupCCCGAG in the SASH1 gene is a pathogenic mutation for the clinical manifestations of familial generalized lentiginosis in this family.

Two case reports of X-linked acrogigantism and pathogenic gene detection / 中华内分泌代谢杂志

Objective:To report the clinical characteristics, diagnosis, and treatment of 2 cases of X-linked acrogigantism(X-LAG).Methods:The clinical information of two patients were retrospectively reported, and peripheral blood DNA was collected for copy number variations detection.Results:Both patients had onset at age of two, with common clinical characteristics including linear growth acceleration, mild facial coarsening, enlargement of hands and feet, increased appetite, and snoring, etc. The heights Z scores of the two patients before treatment were + 6.86 and + 6.53, respectively. Growth hormone(GH) glucose inhibition test showed that GH nadir values were over 1 ng/mL and insulin-like growth factor-Ⅰ(IGF-Ⅰ) were 586.0 ng/mL and 1 042.0 ng/mL, respectively. Patient 1 received three cycles of octreotide microspheres therapy followed by surgery, and achieved clinical and biochemical remission. Patient 2 had lanreotide for 5.5 years but failed biochemical remission. Microduplication of Xq26.3, which contained pathogenic gene G-protein coupled receptor 101(GPR101), was found in germline DNA of two patients through copy number variation detection, leading to the diagnosis of X-LAG.Conclusion:It should be cautious of X-LAG when children below 2 years old presents symptoms such as overgrowth and so on. Medication combined with surgery is effective.

Solitary renal duplication with misaligned malrotation of upper and lower moieties complicated by complete staghorn stones in the lower moiety: a case report / 中华泌尿外科杂志

Solitary kidney, renal duplication and malrotation are rare congenital renal malformations in urology department, and probably contributed to some complications such as obstruction, hydronephrosis, infection, stones. In this case report, we firstly presented a male patient with rarely multiple renal malformations, including solitary kidney, renal duplication, misaligned malrotation of upper and lower moieties, and accompanied by complete staghorn stones and hydronephrosis, who was treated with open pyelolithotomy under general anesthesia. After the operation, obstruction, hydronephrosis, and infection were relieved.

Mechanistic analysis for the origin of diverse diterpenes in Tripterygium wilfordii

Tripterygium wilfordii is a valuable medicinal plant rich in biologically active diterpenoids, but there are few studies on the origins of these diterpenoids in its secondary metabolism. Here, we identified three regions containing tandemly duplicated diterpene synthase genes on chromosomes (Chr) 17 and 21 of T. wilfordii and obtained 11 diterpene synthases with different functions. We further revealed that these diterpene synthases underwent duplication and rearrangement at approximately 2.3-23.7 million years ago (MYA) by whole-genome triplication (WGT), transposon mediation, and tandem duplication, followed by functional divergence. We first demonstrated that four key amino acids in the sequences of TwCPS3, TwCPS5, and TwCPS6 were altered during evolution, leading to their functional divergence and the formation of diterpene secondary metabolites. Then, we demonstrated that the functional divergence of three TwKSLs was driven by mutations in two key amino acids. Finally, we discovered the mechanisms of evolution and pseudogenization of miltiradiene synthases in T. wilfordii and elucidated that the new function in TwMS1/2 from the terpene synthase (TPS)-b subfamily was caused by progressive changes in multiple amino acids after the WGT event. Our results provide key evidence for the formation of diverse diterpenoids during the evolution of secondary metabolites in T. wilfordii.

Deradelphous Cephalothoracoomphalopagus in kittens: case report / Cefalotoraconfalopago derafelfo em gatos: relato de caso

The present report describes a case of conjoined twins of the cephalo-thoraco-omphalopagus deradelphous type in cats. A feline female was transferred to our veterinary hospital as an emergency for dystocic labor. The stillborn was subjected to radiographic evaluation, and a single skull and two complete distinct vertebral columns were found. Anatomopathological examination revealed that the twins presented the head, chest, and umbilicus as the main points of union and were classified as the cephalo-thoraco-omphalopagus type. In addition, the twins had unique and well-developed faces, which allowed them to be classified as deradelphous. This malformation is rare in domestic animals, and to the best of our knowledge, this type has not been reported in felines. Further studies are warranted on this embryonic alteration, primarily because its etiology remains unknown.(AU)

O presente relato descreve um caso de gêmeos siameses do tipo cefalotoraconfalopago deradelfo em gatos. Uma fêmea felina foi atendida na emergência do hospital veterinário em trabalho de parto distócico. Os natimortos foram encaminhados para avaliação radiográfica e constatou-se que apresentavam um único crânio e duas colunas vertebrais completas e distintas. O exame anatomopatológico evidenciou que os gêmeos possuíam cabeça, tórax e umbigo como principais pontos de união, sendo classificados como cefalotoraconfalopago. Além disso, os gêmeos apresentaram face única e bem desenvolvida, o que permitiu classificá-los como deradelfos. Esse tipo de malformação é raro em animais domésticos, e não foi encontrado nenhum trabalho em felino com a mesma classificação do presente relato. Há necessidade de mais estudos sobre essa alteração embrionária, pois a etiologia do processo ainda não foi esclarecida.(AU)

5p13. 2 Chromosomal duplication syndrome: case report and literature review / Síndrome de duplicação cromossômica 5p13. 2: relato de caso e revisão da literatura

Chromosome 5p13 duplication syndrome represents a contiguous gene syndrome involving duplication of several genes on chromosome 5p13. Some clinical phenotypes are related to it, such as: obsessive-compulsive behavior, small palpebral fissures, intellectual disability, global development delay and ocular hypertelorism. The exact mechanism behind these changes has not well known and further studies are needed for this purpose. Since it is a rare and uncommon clinical situation, the case report contributes to the knowledge of the disease and early diagnosis. This condition mainly affects the cognitive neuromuscular system. We describe an 8-year-old Brazilian patient with the duplication of chromosome 5p13.2, karyotype, whose neurodevelopmental evaluation presented cognitive impairment, severe language delay and atypical physical examination, with ocular hypertelorism, right auricular tags, congenital heart defect and long fingers. The patient was diagnosed by comparative genomic hybridization (CGH)-array revealing a 204Kb of DNA duplication. The exact mechanism behind these structural disorders is still unclear and further studies are needed for this purpose. Nevertheless, the diagnostic suspicion of this genetic alteration that, in general, presents late diagnosis, should be considered to enable better clinical support to the patients and family genetic counseling.

A síndrome da duplicação do cromossomo 5p13 representa uma síndrome genética contígua envolvendo a duplicação de vários genes contidos nesta região. Alguns fenótipos clínicos estão relacionados com ela, tais como: comportamento obsessivo compulsivo, fissuras palpebrais pequenas, déficit intelectual, atraso no desenvolvimento global e hipertelorismo ocular. Por ser uma situação clínica rara, o relato do caso contribui para a disseminação do conhecimento acerca da condição, assim como para seu diagnóstico precoce. Descrevemos uma paciente brasileira de oito anos com a duplicação do cromossomo 5p13.2, que na avaliação do neurodesenvolvimento apresentou comprometimento cognitivo, grave atraso da linguagem e dismorfismos como hipertelorismo ocular, apêndice auricular direito, sopro cardíaco, relacionado a defeito do septo ventricular, e dedos alongados. A paciente foi diagnosticada por meio da pesquisa molecular (CGH)-array com ganho de 204Kb de DNA. O mecanismo exato por trás dessas alterações estruturais ainda não está claro e são necessários mais estudos para este fim. Não obstante, a suspeita diagnóstica dessa alteração genética que, em geral, apresenta diagnóstico tardio, deve ser aventada para viabilizar melhor suporte clínico aos pacientes e aconselhamento genético familiar.

Quiste de duplicación gástrico en paciente adulto: Reporte de caso y revisión de la literatura / Gastric duplication cyst in an adult patient: Case report and literature review

Introducción. Los quistes gástricos de duplicación son malformaciones congénitas muy infrecuentes del tracto gastrointestinal. Se definen como una lesión quística tapizada por epitelio gastrointestinal que comparte una capa de músculo liso con la pared gástrica. Se han propuesto diferentes teorías sobre su patogénesis, sin embargo, los eventos embriológicos que conducen a la malformación no han logrado ser dilucidados. Debido a su localización y presentación clínica, el diagnóstico se realiza con mayor frecuencia durante los primeros años de vida y existen pocos casos reportados en adultos, en quienes el hallazgo suele ser incidental. Caso clínico. Se presenta el caso de una mujer de 65 años quien consultó por dolor abdominal crónico y síntomas digestivos inespecíficos. Por medio de Tomografía Axial Computarizada se evidenció una lesión quística en contacto con el páncreas y la pared gástrica. Se realizó exploración quirúrgica que, junto con los hallazgos histopatológicos, confirmó el diagnosticó de quiste de duplicación gástrico. Discusión. Los quistes de duplicación gástrica son anomalías excepcionales que se localizan más frecuentemente en la curvatura mayor. Su tratamiento es quirúrgico y la confirmación del diagnóstico se realiza mediante la histología

Introduction. Gastric duplication cysts are very rare congenital malformations of the gastrointestinal tract. They are defined as a cystic lesion lined by gastrointestinal epithelium that shares a layer of smooth muscle with the gastric wall. Different theories have been proposed about its pathogenesis, however, the embryological events that lead to the malformation have not been elucidated. Due to its location and clinical presentation, the diagnosis is made more frequently during the first years of life and there are few cases reported in adults, in whom the finding is usually incidental. Clinical case. We present the case of a 65-year-old woman who consulted for chronic abdominal pain and nonspecific digestive symptoms. A CT scan evidenced a cystic lesion in contact with the pancreas and the gastric wall. A surgical exploration was performed which, along with the histopathological findings, confirmed the diagnosis of a gastric duplication cyst. Discussion. Gastric duplication cysts are exceptional anomalies that are more frequently located in the greater curvature. Its treatment is surgical and the confirmation of the diagnosis is made by histology

Mutación FTL3-ITD y su relación con variables hematológicas y clínicas en individuos con Leucemia Mieloide Aguda / FTL3-ITD mutation and its relationship with hematological and clinical variables in individuals with Acute Myeloid Leukemia / A mutação FTL3-ITD e sua relação com variáveis hematológicas e clínicas em indivíduos com leucemia mielóide aguda

INTRODUCCIÓN: la Leucemia Mieloide Aguda es la neoplasia hematológica más común, caracterizada por una proliferación incontrolada de células madre hematopoyéticas. La mutación FLT3/ITD se presenta en aproximadamente el 30% de todos los pacientes con ésta patología, se asocia con mayor riesgo de recaída y menor supervivencia. El FLT3-ITD puede usarse como un factor pronóstico de la gravedad de ésta patología, importante para predecir los resultados clínicos en pacientes con LMA. OBJETIVO: el objetivo de este estudio fue relacionar la mutación FLT3/ITD con variables hematológicas y clínicas en pacientes diagnosticados con Leucemia Mieloide Aguda atendidos en la Sociedad de Lucha contra el Cáncer (SOLCA) de la ciudad de Cuenca, periodo 2013 ­2020. MÉTODOS: se obtuvieron los datos a partir de registros secundarios registrados una base de datos del hospital, el universo de la muestra lo constituyeron 63 pacientes, diagnosticados con LMA, se les analizó la mutación FLT3/ITD por PCR Convencional. RESULTADOS: se encontró la presencia de la mutación en un 9.5% y una asociación significativamente estadística con alteraciones hematológicas relacionados con niveles de hemoglobina anormal (p=0,037) y ratio 6,63 y LDH elevada en 1,21 veces (p=0,024); recuento elevado de leucocitos y blastos (p=0,031). Los individuos portadores de la mutación se presentó con mayor incidencia en el sexo masculino y grupo etario adulto mediano (45-64 años). CONCLUSIONES: la literatura internacional afirma que la mutación FLT3/ITD en un importante marcador pronóstico; debido a su baja frecuencia, no se pudo determinar una relación estadísticamente significativa con otras variables clínicas en este estudio.(AU)

INTRODUCTION: acute Myeloid Leukemia is the most common hematological neoplasm, characterized by an uncontrolled proliferation of hematopoietic stem cells. The FLT3 / ITD mutation occurs in approximately 30% of all patients with this pathology, it is associated with a higher risk of relapse and lower survival. FLT3-ITD can be used as a poor prognostic factor, important for predicting clinical outcomes in patients with AML. OBJECTIVE: the objective of this study was to characterize the FLT3 / ITD mutation and its relationship with hematological and clinical variables in patients diagnosed with Acute Myeloid Leukemia treated at SOLCA in the city of Cuenca, period 2013-2020. METHODS: data were obtained from secondary records in a hospital database, the universe of the sample was made up of 63 patients, diagnosed with AML, and the FLT3 / ITD mutation was analyzed by Conventional PCR. RESULTS: the presence of the mutation was found in 9.5% and a statistically significantly association with hematological alterations related to abnormal hemoglobin levels (p = 0.037) and ratio 6.63 and LDH elevated in 1.21 times (p =0.024); Elevated leukocyte and blast count (p = 0.031). Individuals carrying the mutation had a higher incidence in males and in the middle adult age group (45-64 years). CONCLUSIONS: the international literature affirms that the FLT3 / ITD mutation is an important prognostic marker; Due to its low frequency, it was not possible to determine a statistically significant relationship with other clinical variables in our study, for which it is suggested to expand the unirverse of the sample.(AU)

INTRODUÇÃO: a Leucemia Mielóide Aguda é a malignidade hematológica mais comum, caracterizada pela proliferação descontrolada de células-tronco hematopoiéticas. A mutação FLT3/ITD está presente em aproximadamente 30% de todos os pacientes com esta patologia, e está associada a um maior risco de recaída e menor sobrevida. O FLT3-ITD pode ser usado como um fator prognóstico para a gravidade desta patologia, importante para prever os resultados clínicos em pacientes com LMA. OBJETIVO: o objetivo deste estudo foi relacionar a mutação FLT3/ITD com variáveis hematológicas e clínicas em pacientes diagnosticados com leucemia mielóide aguda tratados na Sociedade de Luta contra o Câncer (SOLCA) na cidade de Cuenca, período 2013 - 202020. Métodos. Os dados foram obtidos de registros secundários registrados em um banco de dados hospitalar, o universo da amostra consistiu de 63 pacientes diagnosticados com AML, eles foram analisados para a mutação FLT3/ITD por PCR convencional. RESULTADOS: a presença da mutação foi encontrada em 9,5% e uma associação estatística significativa com alterações hematológicas relacionadas a níveis anormais de hemoglobina (p=0,037) e relação 6,63 e LDH elevada em 1,21 vezes (p=0,024); contagem elevada de leucócitos e explosões (p=0,031). Os individuos portadores da mutação ocorreram com maior incidência no sexo masculino e na faixa etária média adulta (45-64 anos). CONCLUSÕES: a literatura internacional afirma que a mutação FLT3/ITD em um marcador prognóstico importante; devido a sua baixa freqüência, uma relação estatisticamente significativa com outras variáveis clínicas não pôde ser determinada neste estudo.(AU)

Duplicación del apéndice vermiforme. Reporte de caso / Vermiform appendix duplication - case report

Dar a conocer una presentación inusual de una patología frecuente. Se presenta caso de paciente masculino de 27 años con cuadro clínico de apendicitis aguda. Se realiza apendicetomía abierta en la cual se identifican dos apéndices vermiformes. Se confirma el diagnóstico por medio de anatomía patología, una con apendicitis aguda perforada y otra con peri-apendicitis. Es importante el conocimiento de esta patología para que se pueda reconocer y evitar errores de juicio durante el procedimiento quirúrgico y futuras complicaciones para el paciente. (AU)

Report an unusual presentation of a common pathology. A case of a 27-year-old male with a clinical picture of acute appendicitis is presented. An open appendectomy is performed in which two vermiform appendages are identified. The diagnosis is confirmed by pathology, one with perforated acute appendicitis and the other with peri-appendicitis. Knowledge of this pathology is important so that errors of judgment can be recognized and avoided during the surgical procedure and future complications for the patient. (AU)

Quiste enterogénico y agenesia renal en la edad adulta / Enterogenic cyst and renal agenesis in adulthood

Introducción: Los quistes enterogénicos son malformaciones producidas durante el período de diferenciación y desarrollo embriológico del intestino primitivo. Objetivo: Presentar una malformación digestiva infrecuente en la edad adulta. Caso clínico: Paciente de 58 años que acude por dolor abdominal y aumento de volumen en hipogastrio. Al examen físico se palpa masa en hipogastrio de 15 cm de diámetro. La tomografía axial computarizada simple y contrastada mostró una masa tumoral en la excavación pélvica hipodensa con densidad de 18 UH, pared gruesa, de 2 cm, que realza con el contraste y agenesia renal derecha. El estudio anatomo-patológico informa quiste enterogénico. Discusión: La clínica de las duplicaciones intestinales es inespecífica, el dolor abdominal recurrente y la presencia de masa abdominal, son frecuentes. El diagnóstico preoperatorio de las duplicaciones intestinales es infrecuente, depende de la disponibilidad de estudios de imagen y la sospecha clínica. Es infrecuente la asociación de quiste enterogénico y agenesia renal. Conclusión: Se presenta una paciente masculino con una masa pélvica de etiología dudosa y agenesia renal derecha, en el que se diagnosticó un quiste enterogénico. La asociación de quiste enterogénico y agenesia renal es una malformación rara en el adulto(AU)

Introduction: Enterogenic cysts are malformations produced during the period of differentiation and embryological development of the primitive intestine. Objective: To report an rare digestive malformation in adulthood. Clinical case report: A 58-year-old patient came for abdominal pain and increased volume in the hypogastrium. On physical examination, a 15-cm diameter mass was palpated in the hypogastrium. Simple and contrast computerized axial tomography showed a tumor mass in the hypodense pelvic excavation with a density of 18 HU, a thick wall of 2 cm, which was enhanced with contrast and right renal agenesis. The anatomo-pathological study reports an enterogenic cyst. Discussion: The symptoms of intestinal duplications are nonspecific, recurrent abdominal pain and the presence of an abdominal mass are frequent. The preoperative diagnosis of intestinal duplications is occasional, it depends on the availability of imaging studies and clinical suspicion. The association of enterogenic cyst and renal agenesis is uncommon. Conclusion: A male patient is reported, with a pelvic mass of doubtful etiology and right renal agenesis, in whom an enterogenic cyst was diagnosed. The association of enterogenic cyst and renal agenesis is a rare malformation in adults(AU)

Genetic analysis of products of conception. Should we abandon classic karyotyping methodology? / Análise genética dos produtos de concepção. Devemos abandonar a metodologia de cariotipagem clássica?

ABSTRACT Objective: To compare the results obtained by the classic and molecular methodology in the analysis of products of conception, the advantages and disadvantages of each method. Methods: Retrospective non-randomized analysis of results obtained from product of conception samples submitted to genetic evaluation, from 2012 to 2017. The evaluations were performed using cytogenetics and/or chromosomal microarray analysis or arrays. Results: Forty samples were analyzed using classic cytogenetics, of which 10% showed no cell growth, 50% had normal results and 40% had abnormalities. Of the 41 cases sent for array analysis it was not possible to obtain results in 7.3%, 39.5% were normal and 60.5% had abnormalities. There was no statistical difference among the results (p=0.89). Most abnormal results were seen till 9 weeks' gestation. The later abnormal miscarriage was seen at 28 weeks' gestation, with karyotype 46,XX,del(15)(q26.2-qter). The results are corroborated by the international literature. Conclusion: Classic cytogenetics and array techniques showed comparable results on the type of alteration observed. Array analysis is preferable to cell culture in delayed abortions, while cytogenetics is more able to show polyploidies. Both have the same growth failure rates when product of conception tissue is not properly collected.

RESUMO Objetivo: Comparar os resultados obtidos pela metodologia clássica e molecular na análise de produtos de concepção, além das vantagens e desvantagens de cada método. Métodos: Análise retrospectiva não randomizada dos resultados obtidos a partir de amostras de produto de concepção submetidas à avaliação genética, de 2012 a 2017. As análises foram realizadas por citogenética clássica e/ou análise cromossômica de microarray ou arrays. Resultados: Quarenta amostras foram analisadas por citogenética, das quais 10% não apresentaram crescimento celular, 50% apresentaram resultados normais, e 40% apresentaram anormalidades. Dos 41 casos encaminhados para análise por array, não foi possível obter resultados em 7,3%, 39,5% eram normais, e 60,5% apresentavam alterações. Não houve diferença estatística entre os resultados (p=0,89). A maioria dos resultados anormais foi observada até a nona semana de gestação. Uma perda fetal mais tardia foi observada na 28ª semana de gestação, com cariótipo 46,XX,del(15)(q26.2-qter). Os números observados corroboraram a literatura mundial. Conclusão: As técnicas de citogenética clássica e análise por array mostraram resultados comparáveis no tipo de alteração observada. O array é preferível à cultura de células em abortos tardios, enquanto a citogenética é mais capaz de mostrar poliploidias. Ambos têm as mesmas taxas de falha de crescimento quando o tecido do produto de concepção não é coletado adequadamente.

A case of Turner syndrome with horseshoe kidney and right side duplication kidney with UPJO and double kidney cyst / 中华泌尿外科杂志

This paper reports a rare clinical case of 46 X, i(X)(q10)TS in a female patient with horseshoe kidney and right duplication kidney with renal pelvic and ureteral junction stenosis and double kidney cysts, secondary to right renal calculi and hydronephrosis. After open surgical treatment, the curative effect was definite, which effectively relieved the stenosis at the junction of the renal pelvis and ureter and relieved the clinical symptoms of the patient. The patient was followed up for 3 months and recovered well. When TS is combined with horseshoe kidney with UPJO, open pyeloplasty with partial isthmus and renal fixation are still classic surgical procedures.

Tubular enteric duplication presenting as jejuno-colic fistula in a 38 years old adult

Colo-enteric fistula is a rare entity, malignancy being the commonest cause. Both adenocarcinoma and rarely lymphoma have been known to cause it. Benign jejuno-colic fistulas are mostly secondary to tuberculosis or inflammatory bowel disease. Here we present a case of a young adult male, who presented with altered bowel habits. Colonoscopy and oesophago-gastro-duodenoscopy (OGD) revealed a fistulous tract between the proximal jejunum to the splenic flexure of colon. Surgery revealed a small fistulous connection between the above-mentioned parts of the bowel about 1cm long. Histopathology demonstrated it to have all the layers of the intestinal anatomy, hence indicating a possibility of congenital aetiology, probably enteric duplication of communicating tubular variety.