Abstract Congenital hypofibrinogenemia is a rare autosomal recessive condition leading to low plasma fibrinogen levels, affecting approximately one in a million. The clinical phenotype is diverse and may vary from bleeding and thrombosis to the absence of symptoms. Bone cysts are an infrequent complication of hypofibrinogenemia. This case report describes the clinical history, diagnosis, and treatment of a 13-year-old patient with congenital hypofibrinogenemia with a bone cyst.

ABSTRACT Introduction Obstructive azoospermia occurs when there is a blockage in the male reproductive tract, leading to a complete absence of sperm in the ejaculate. It constitutes around 40% of all cases of azoospermia (1, 2). Blockages in the male reproductive tract can arise from either congenital or acquired factors, affecting various segments such as the epididymis, vas deferens, and ejaculatory ducts (3). Examples of congenital causes encompass conditions like congenital bilateral absence of the vas deferens and unexplained epididymal blockages (4). Acquired instances of obstructive azoospermia may result from factors like vasectomy, infections, trauma, or unintentional injuries caused by medical procedures (5). This complex condition affecting male fertility, presents two main treatment options: microsurgical reconstruction and surgical extraction of sperm followed by in vitro fertilization (IVF). Microsurgical reconstruction proves to be the most cost-effective option for treating obstructive azoospermia when compared with assisted reproductive techniques (6, 7). However, success rates of reconstruction defined by patency are as high as 99% for vasovasostomy (VV) but decline to around 65% if vasoepididymostomy (VE) is required (8, 9). Thus, continued refinement in technique is necessary in order to attempt to improve patency for patients undergoing VE. In this video, we show a comprehensive demonstration of microsurgical VE, highlighting the innovative epididymal occlusion stitch. The goal of this innovative surgical technique is to improve outcomes for VE. Materials and Methods The patient is a 39-year-old male diagnosed with obstructive azoospermia who presents for surgical reconstruction via VE. His partner is a 37-years-old female with regular menstrual cycles. The comprehensive clinical data encompasses a range of factors, including FSH levels, results from semen analysis, and outcomes from testicular sperm aspiration. This thorough exploration aims to provide a thorough understanding of our innovative surgical technique and its application in addressing complex cases of obstructive azoospermia. Results The procedure was started on the right, the vas deferens was identified and transected. The abdominal side of the vas was intubated and a vasogram performed, there was no obstruction. There was no fluid visible from the testicular side of the vas for analysis, thus we proceeded with VE. Upon inspection of the epididymis dilated tubules were identified. After selecting a tubule for VE, two 10-0 nylon sutures were placed, and it was incised. Upon inspection of the fluid motile sperm was identified. After VE, we performed a novel epididymal occlusion stitch technique. This was completed distal to the anastomosis by placing a 7-0 prolene through the tunica of the epididymis from the medial to lateral side. This stitch was then tightened down with the goal to largely occlude the epididymis so that sperm will preferentially travel through the anastomosis. The steps were then repeated on the left. At 3-month follow up, the patient had no change in testicular size as compared with preoperative size (18cc), he had no testicular or incisional discomfort, and on semen analysis he had presence of motile sperm. After 3 months post-surgery, the patient had motile sperm seen on semen analysis. Discussion The introduction of a novel epididymal occlusion stitch demonstrates a targeted strategy to enhance the success of microscopic VE. Encouragingly, a 3-month post-surgery follow-up reveals the presence of motile sperm, reinforcing the potential efficacy of our approach. This is promising given the historical lower patency, delayed time to patency, and higher delayed failure rates that patients who require VE experience (10). In total, 40% of all azoospermia cases can be attributed to obstruction. The conventional treatments for obstructive azoospermia involve microsurgical reconstruction and surgical sperm retrieval followed by IVF. While microsurgical reconstruction has proven to be economically viable, the quest for enhanced success rates has led to the exploration of innovative techniques. Historically, the evolution of VV and VE procedures, initially performed in the early 20th century, laid the foundation for contemporary microsurgical approaches (11). Notably, the microscopic VV demonstrated significant improvements in patency rates and natural pregnancy likelihood, as evidenced by the seminal Vasovastomy Study Group study in 1991 (8). In contemporary literature, success rates particularly for VE remain unchanged for the past three decades since the original published success rates by the Vasectomy Reversal Study Group (12). VE is associated with a longer time to patency as well with patients taking 2.8 to 6.6 months to have sperm return to ejaculate as compared to 1.7 to 4.3 months for those undergoing VV. Additionally, of those patients who successfully have sperm return to the ejaculate after VE up to 50% will have delayed failure compared to 12% for those undergoing VV who are patent. Finally, of those who experience delayed failure after undergoing VE it usually occurs earlier with studies reporting as early as 6 months post-operatively (20). Given the lack of improvement and significantly worsened outcomes with VE further surgical refinement is a constant goal for surgeons performing this procedure. Conclusion: In conclusion, this video is both a demonstration and a call to action for commitment to surgical innovation. We aim to raise the bar in VE success rates, ultimately bringing tangible benefits to patients and contributing to the ongoing evolution of reproductive medicine. The novel epididymal occlusion stitch emerges as a beacon of progress, promising not only enhanced safety but also potential reductions in patency time. Surgical excellence and methodological refinement, as exemplified in this video, lay the foundation for a future where male reproductive surgery continues to break new ground. 40 1, 1 (1 2. 2 . 2) 3. (3) 4. 4 (4) vasectomy infections trauma 5. 5 (5) fertility options IVF (IVF) costeffective cost effective 6, (6 7. 7 7) However 99 (VV 65 (VE 8, 8 (8 9. 9 9) Thus 39yearold yearold 39 year old 37yearsold yearsold 37 years cycles levels aspiration right transected obstruction 100 10 0 10- placed incised 70 7- left 3month month 18cc, 18cc cc , (18cc) discomfort postsurgery, postsurgery post surgery, Encouragingly followup approach 10. (10) total viable Historically th century 11. 11 (11) Notably likelihood 199 8. (8) literature 12. 12 (12) 28 66 6. 17 1. 43 Additionally 50 patent Finally postoperatively operatively 20. 20 (20) Conclusion conclusion innovation medicine progress ground ( (3 (4 (5 (IVF (18cc (10 (11 19 (12 (20 (2

ABSTRACT Background: The absence of the penis causes serious physical limitations and psychosocial distress. Phallic reconstruction (PR) is a complex procedure because it involves the restoration of morphological and functional aspects. The radial forearm flap (RFF) is one of the best options for PR. Objective: The aim of this study was to describe the results of a series of patients undergoing PR using RFF. Material and methods: We conducted a descriptive observational study by reviewing the records of patients who underwent PR with RFF not related to gender dysphoria between July 2014 and July 2017. Results: Three patients aged 27, 36, and 22 years underwent reconstruction for traumatic amputation, oncologic treatment sequelae, and congenital defect, respectively. None of the patients developed flap necrosis. Somatic sensation was effective in all three cases and erogenous sensation in one. All patients reported overall satisfaction with the procedure. Conclusion: The use of RFF for PR by a multidisciplinary team produced satisfactory and uncomplicated results. Urethral reconstruction should be decided depending on each patient.

RESUMEN Antecedentes: la falta de pene causa trastornos físicos y psicológicos graves. Su reconstrucción es compleja porque comprende restituir aspectos morfológicos y funcionales. El colgajo radial microquirúrgico (CRM) es una de las mejores opciones para la reconstrucción fálica (RF). Objetivo: describir los resultados de una serie de pacientes con RF mediante CRM. Material y métodos: trabajo observacional descriptivo a través de la revisión de los registros de pacientes a quienes se les realizó RF con CRM entre julio de 2014 y julio de 2017, no relacionados con disforia de género. Resultados: tres pacientes, de 27, 36 y 22 años, fueron reconstruidos, respectivamente, por amputación traumática, secuela de tratamiento oncológico y por malformación congénita. No se presentaron necrosis de los colgajos. La sensibilidad somática fue efectiva en los tres casos y la erógena en uno. Todos los pacientes refirieron satisfacción general con el procedimiento. Conclusión: el CRM, realizado por un equipo multidisciplinario, permitió una RF satisfactoria. La reconstrucción de la uretra debe ser decidida

Abstract Mirror foot is a rare congenital anomaly within the spectrum of complex polydactyly of the foot. It can occur alone or with other malformations or genetic syndromes. It is a little described topic in the literature, with few publications on its treatment. We report the case of a 4-year-old female patient who presented eight fingers on her left foot and no other associated deformities. Her complaints included the impossibility of wearing closed shoes and social stigma. Radiography revealed eight metatarsals with their respective phalanges, five cuneiform bones, and the absence of bone deformities in the hindfoot. We opted for a surgical approach aiming at functional and esthetic improvement, in addition to better adaptation to closed shoes, as desired by the patient and her family. We performed a dorsal and plantar "V" incision and resected three supernumerary rays, including three central metatarsals with their nine corresponding phalanges, two cuneiform bones, tendons, and excess digital nerves. Next, we sutured the intermetatarsal ligaments, preserving the fingers with a normal appearance, reducing the width of the foot, and preserving adequate support. Kirschner wires maintained the reduction by transmetatarsal fixation. During the postoperative period, the patient wore a boot splint with zero load with no complications. We removed the Kirschner wires and allowed load on the limb after 12 weeks. syndromes literature treatment 4yearold yearold 4 year old stigma phalanges bones hindfoot improvement family V "V rays tendons nerves Next ligaments appearance support fixation period complications 1 weeks

Resumo O pé em espelho é uma anomalia congênita rara, pertencente ao espectro das polidactilias complexas dos pés. Pode ocorrer isoladamente ou associado a outras malformações ou síndromes genéticas. Trata-se de um tema pouco descrito na literatura, com escassas publicações acerca do seu tratamento. Relatamos o caso de uma paciente do sexo feminino, de 4 anos de idade, que apresentava pé esquerdo com 8 dedos, sem outras deformidades associadas, cuja queixa incluía impossibilidade do uso de calçados fechados e estigma social. Radiograficamente, verificou-se a presença de oito metatarsos com suas respectivas falanges, cinco ossos cuneiformes e ausência de deformidades ósseas no retropé. Optou-se pela abordagem cirúrgica visando uma melhoria funcional e estética, bem como melhor adaptação ao uso de calçados fechados, conforme desejo da paciente e de sua família. Foi realizada incisão em "V" dorsal e plantar com ressecção de três raios supranumerários, incluindo três metatarsos centrais com suas nove falanges correspondentes, dois ossos cuneiformes, tendões e nervos digitais excedentes, seguida da sutura dos ligamentos intermeta-tarsais, com preservação dos dedos com aparência normal, diminuição da largura do pé e manutenção do seu apoio adequado. A redução foi mantida por fixação transmetatarsal com fios de Kirschner. O pós-operatório seguiu com o uso de tala bota e carga zero, sem intercorrências; os fios de Kirschner foram retirados, e a carga no membro foi liberada após 12 semanas. rara pés genéticas Tratase Trata se literatura tratamento feminino idade associadas social Radiograficamente verificouse verificou retropé Optouse Optou estética família V "V supranumerários correspondentes excedentes intermetatarsais, intermetatarsais intermeta tarsais, tarsais intermeta-tarsais normal adequado pósoperatório pós operatório zero intercorrências retirados 1 semanas

ABSTRACT Introduction: Coarctation of the aorta (CoA) is a narrowing of the thoracic aorta that often manifests as discrete stenosis but may be tortuous or in long segment. The study aimed to evaluate pre and post-surgical aspects of pediatric patients submitted to CoA surgical correction and to identify possible predisposing factors for aortic recoarctation. Methods: Twenty-five patients were divided into groups according to presence (N=8) or absence (N=17) of recoarctation after surgical correction of CoA and evaluated according to clinical-demographic profile, vascular characteristics via computed angiotomography (CAT), and other pathological conditions. Results: Majority of males (64%), ≥ 15 days old (76%), ≥ 2.5 kg (80%). There was similarity between groups with and without recoarctation regarding sex (male: 87% vs. 53%; P=0.277), age (≥ 15 days: 62.5 vs. 82%; P=0.505), and weight (≥ 2.5 kg: 87.5 vs. 76.5; P=0,492). Altered values of aortic root/Valsalva diameter, proximal transverse arch, and distal isthmus, and normal values for aorta prevailed in preoperative CAT. Normal values for the aortic root/Valsalva sinus diameter were observed with and without recoarctation, the same for both groups regarding ascending and descending aorta in postoperative CAT. No significant difference for altered values of proximal transverse arch and alteration in distal isthmus was observed. Conclusion: No predictive risk for recoarctation was observed. CTA proved to be important in CoA diagnosis and management, since CoA is mainly related with altered diameter of aortic root/sinus of Valsalva and proximal and distal aortic arch/isthmus, however, it failed to show predictive risk for recoarctation. Introduction (CoA segment postsurgical post Methods Twentyfive Twenty five N=8 N8 N 8 (N=8 N=17 N17 17 (N=17 clinicaldemographic clinical demographic profile CAT, CAT , (CAT) conditions Results 64%, 64 64% (64%) 1 76%, 76 76% (76%) 25 2 5 2. 80%. 80 80% . (80%) male (male 87 vs 53% 53 P=0.277, P0277 P P=0.277 0 277 P=0.277) ( 625 62 62. 82% 82 P=0.505, P0505 P=0.505 505 P=0.505) 875 87. 76.5 765 P=0,492. P0492 P=0,492 492 P=0,492) rootValsalva root Conclusion management rootsinus archisthmus arch/isthmus however N= (N= N=1 N1 (N=1 (CAT 6 (64% 7 (76% (80% P027 P=0.27 27 P050 P=0.50 50 76. P049 P=0,49 49 (N (64 (76 (80 P02 P=0.2 P05 P=0.5 P04 P=0,4 4 (6 (7 (8 P0 P=0. P=0, P=0 P=

Resumen: La aplasia cutis es una rara alteración congénita caracterizada por la ausencia de piel, pudiendo llegar a estructuras más profundas: músculo, hueso y duramadre, como en el presente caso. Se localiza más frecuentemente en el cuero cabelludo, donde se asocia a un defecto óseo en el 20% de los casos. Recién nacido de sexo femenino, término, adecuado para la edad gestacional, vigoroso. Con diagnóstico prenatal a las 36 semanas de edad gestacional de encefalocele. Constatándose al nacimiento microcefalia, hipoplasia ósea y cutánea, encefalocele en línea media de cráneo. Se realizó manejo por equipo multidisciplinario, se practicaron varias intervenciones quirúrgicas, con buena evolución.

Summary: Aplasia Cutis is a rare congenital condition, defined by the absence of skin in a particular body region, it can also compromise muscle, bone and dura mater as shown in this case. It is mostly located on the scalp, where it is associated with a bone defect in 20% of cases. We will discuss the case of a female newborn, term gestation, vigorous at birth, with prenatal diagnosis of encephalocele at 36 weeks of gestational age. We observed microcephaly, bone and skin hypoplasia, encephalocele in the midline of the skull at birth. Several surgical interventions were carried out and the follow-up was made by a multidisciplinary team, with good evolution.

Resumo: A Aplasia Cútis é uma alteração congênita rara, caracterizada pela ausência de pele, podendo atingir estruturas mais profundas: muscular, óssea e dura-máter, como neste caso. Localiza-se mais frequentemente no couro cabeludo, onde está associada a um defeito ósseo em 20% dos casos. É apresentado caso de recém-nascida do sexo feminino, a termo, adequada para idade gestacional, vigorosa. Com diagnóstico pré-natal às 36 semanas de idade gestacional de Encefalocele. Microcefalia, hipoplasia óssea e cutânea e encefalocele na linha média do crânio foram confirmadas ao nascimento. O manejo foi realizado por equipe multidisciplinar, diversas intervenções cirúrgicas, com boa evolução.

RESUMO Os distúrbios neurológicos em aves incluem vários agentes infecciosos ou não infecciosos, alguns envolvidos em malformações embrionárias. A hidrocefalia é uma importante desordem neurológica a ser pesquisada em aves. O presente relato tem como objetivo investigar um caso de hidrocefalia em um papagaio-verdadeiro (Amazona aestiva) de um criadouro conservacionista, localizado no estado de Minas Gerais, Brasil, clinicamente acometido por sinais neurológicos. As lesões post mortem observadas foram megaloencefalia, distensão e adelgaçamento da calota craniana, cérebro subdesenvolvido, espessamento das meninges e presença de grande volume (aproximadamente 10mL) de líquido cefalorraquidiano (LCR) claro. As avaliações histopatológicas demonstraram discreta malácia multifocal, associada à gliose e satelitose neuronal no sistema nervoso central. A triagem molecular para vírus e parasitos revelou a ausência de várias etiologias comuns, incluindo Alphavirus (protocolo universal do gênero), Bornavirus aviário, Alphaherpesvirinae (primers universais para subfamília), Paramyxovirus (primers universais da família), vírus da doença de Newcastle (Orthoavulavirus aviário 1), vírus influenza A (Alphainfluenzavirus), vírus da doença de Marek (Mardivirus, Gallid herpesvirus 2), vírus do Nilo Ocidental, Flavivirus (Orthoflavivirus primers universais), Apicomplexa (primers universais para a ordem) e Toxoplasma gondii, todos testados negativos por PCR ou RT-PCR. A bacteriologia e a micologia aeróbias do líquido cefalorraquidiano não revelaram crescimento. Os resultados sugerem que a hidrocefalia resultou do acúmulo crônico craniano de LCR, com aumento da pressão craniana e distensão do crânio antes da ossificação. A acumulação de LCR possivelmente foi devido a causas congênitas de malformação na produção, na drenagem ou na circulação. embrionárias papagaioverdadeiro papagaio verdadeiro Amazona aestiva conservacionista Gerais Brasil megaloencefalia subdesenvolvido aproximadamente 10mL mL (LCR claro multifocal central comuns protocolo gênero, gênero , gênero) subfamília, subfamília subfamília) família, família família) Orthoavulavirus 1, 1 1) Alphainfluenzavirus, Alphainfluenzavirus (Alphainfluenzavirus) Mardivirus, Mardivirus (Mardivirus 2, 2 2) Ocidental Orthoflavivirus universais, universais) ordem gondii RTPCR. RTPCR RT PCR. RT-PCR crescimento ossificação produção circulação (Alphainfluenzavirus

ABSTRACT Hydrocephalus is an important neurological disorder rarely described in birds. The present report aims to describe a natural case of hydrocephalus in a blue-fronted parrot (Amazona aestiva) from a conservationist breeding (Minas Gerais, Brazil), clinically affected with neurological signs. The post-mortem lesions noted were megalencephaly, distension and thinning of the skullcap, underdeveloped brain, thickening of the meninges and the presence of a large volume of approximately 10mL of clear cerebrospinal fluid (CSF). The histopathological evaluations demonstrated discrete multifocal malacia, associated with gliosis and neuronal satellitosis in the central nervous system. The screening for viruses revealed the absence of several common etiologies, including Alphavirus (genus universal primers), avian Bornavirus, Alphaherpesvirinae (subfamily universal primers), Paramyxovirus (family universal primers), Newcastle’s disease virus (avian Orthoavulavirus 1), influenza A virus (Alphainfluenzavirus), Marek's disease virus (Mardivirus, Gallid herpesvirus 2), West Nile virus, Flavivirus (Orthoflavivirus universal primers), Apicomplexa (universal primers) and Toxoplasma gondii, all tested negative by PCR or RT-PCR. The aerobic bacteriology and mycology of the CSF did not reveal growth. The results suggest that the chronic accumulation of CSF with increased cranial pressure resulted in distension of the skull, possibly due to congenital causes of increased production, drainage or circulation. birds bluefronted blue fronted Amazona aestiva Minas Gerais Brazil, Brazil , Brazil) signs postmortem post mortem megalencephaly skullcap brain mL CSF. . (CSF) malacia system etiologies genus primers, primers Bornavirus subfamily family Newcastles Newcastle s 1, 1 1) Alphainfluenzavirus, Alphainfluenzavirus (Alphainfluenzavirus) Mareks Marek Mardivirus, Mardivirus (Mardivirus 2, 2 2) Orthoflavivirus gondii RTPCR. RTPCR RT PCR. RT-PCR growth skull production circulation (CSF (Alphainfluenzavirus

Abstract The aim of the present study was to compare the oral conditions of children with congenital Zika syndrome (CZS)-associated microcephaly, non-CZS-associated microcephaly, and normotypical children, as well as to characterize their sociodemographic aspects and medical history. A paired cross-sectional study was carried out on 14 children with CZS-associated microcephaly and 24 age-matched controls, in Belo Horizonte, in southeastern Brazil. Children’s oral conditions were assessed: dental caries experience (dmft/DMFT indices); developmental defects of enamel (DDE) index; dental anomalies; mucosal changes; lip sealing, and malocclusion (overjet, overbite, and/or posterior crossbite alterations). The quality of oral hygiene was analyzed by the simplified oral hygiene index. The children’s mothers also answered a questionnaire about sociodemographic and medical history data. The variables were analyzed descriptively. Female participants were more prevalent (60.5%), and the mean age of the participants was 4.9 years (±1.4) (range: 2–8 years) and 92.1% of their exhibited some oral condition. All participants with CZS-associated microcephaly showed absence of lip sealing and had malocclusion (100.0%). When compared to the other groups, children with CZS had a higher percentage of dental anomalies (35.7%), mucosal changes (71.4%), and unsatisfactory oral hygiene (64.3%). In a sample composed mainly of female participants aged less than 5 years, the prevalence of oral conditions and unsatisfactory oral hygiene was higher in the group with CZS-associated microcephaly, followed by the group with non-CZS-associated microcephaly. Normotypical children had the highest percentage of dental caries experience. CZSassociated associated nonCZSassociated non crosssectional cross sectional 1 2 agematched matched controls Horizonte Brazil Childrens Children s assessed dmft/DMFT dmftDMFT dmft DMFT indices indices) DDE (DDE index overjet, overjet (overjet overbite andor or alterations. alterations . alterations) childrens data descriptively 60.5%, 605 60.5% , 60 (60.5%) 49 4 9 4. ±1.4 (±1.4 range (range 28 8 2– 921 92 92.1 condition 100.0%. 1000 100.0% 100 0 (100.0%) groups 35.7%, 357 35.7% 35 7 (35.7%) 71.4%, 714 71.4% 71 (71.4%) 64.3%. 643 64.3% 64 3 (64.3%) 60.5 6 (60.5% ±1. (±1. 92. 100.0 10 (100.0% 35.7 (35.7% 71.4 (71.4% 64.3 (64.3% 60. (60.5 ±1 (±1 100. (100.0 35. (35.7 71. (71.4 64. (64.3 (60. ± (± (100. (35. (71. (64. (60 ( (100 (35 (71 (64 (6 (10 (3 (7 (1

ABSTRACT Surgical interventions on the pulmonary valve in adults have been increasing over the years, as patients with congenital heart diseases are experiencing extended lifespans. Reoperations involving multiple sternotomies exhibit elevated morbidity and mortality rates. With nearly two decades of experience in minimally invasive video-assisted mitral valve surgery, we have chosen the left anterior minithoracotomy approach for addressing the pulmonary valve and right ventricular outflow tract in adult patients. The technique demonstrates safety based on initial outcomes, minimizing potential complications from multiple cardiac reapproaches. Our series of five patients demonstrated an absence of postoperative complications or mortality. years lifespans rates videoassisted video assisted surgery outcomes reapproaches

Historically, knowledge regarding congenital skeletal malformations in canines is poor. The Nomina Embryologica Veterinaria does not currently list any dysmorphia related to distal femoral fusion, and there is a significant absence of comprehensive descriptions of congenital defects in the veterinary literature. This paper reports on the radiographic and computed tomography (CT) characteristics of a skeletal abnormality in a seven-month-old crossbreed dog that presented for chronic right pelvic limb lameness as a result of secondary developmental patella luxation. Successful resolution of the lameness was achieved through concurrent surgical correction of the patella luxation and distal femoral cleft.

Syphilis, 'the great imitator', caused by Treponema pallidum infection, remains a complex and multifaceted disease with a rich history of clinical diversity. This guideline aims to be a comprehensive guide for healthcare workers in Southern Africa, offering practical insights into the epidemiology, pathogenesis, clinical manifestations, diagnostic testing, therapeutic principles, and public health responses to syphilis. Although the syphilis burden has declined over the years, recent data indicate a troubling resurgence, particularly among pregnant women and neonates. This guideline highlights the diagnostic challenges posed by syphilis, stemming from the absence of a single high-sensitivity and -specificity test. While treatment with penicillin remains the cornerstone of treatment, alternative regimens may be used for specific scenarios. We highlight the importance of thorough patient follow-up and management of sex partners to ensure optimal care of syphilis cases. In the context of public health, we emphasise the need for concerted efforts to combat the increasing burden of syphilis, especially within high-risk populations, including people living with HIV.

Resumo As anomalias traqueais congênitas são muito raras na medicina veterinária, mas não menos importantes. Como na medicina humana, a grande maioria das possíveis variantes tem uma apresentação clínica muito impressionante devido ao desconforto respiratório que causam no paciente. Todos requerem algum tipo de correção cirúrgica ou minimamente invasiva para superar o quadro agudo. Segue-se o caso de um felino, macho, com 10 meses de idade, que deu entrada no serviço de urgência por dispneia aguda inspiratória e expiratória com particularidade de apresentar estridor inspiratório acentuado. Após a morte do paciente, com a posterior necropsia e histopatologia, concluiu-se que ele apresentava uma estenose traqueal congênita segmentar devido à ausência de anéis traqueais.

Resumen Las anomalías traqueales congénitas son muy poco comunes en medicina veterinaria, no por ello menos importantes. Al igual que lo que sucede en medicina humana la gran mayoría de las posibles variantes son de presentación clínica muy impactante debido al distrés respiratorio que producen en el paciente. Todas requieren algún tipo de corrección quirúrgica o mínimamente invasiva para poder superar el cuadro agudo. A continuación, se expone el caso de un felino macho de 10 meses de edad, que se presentó en el servicio de urgencias por un cuadro agudo de disnea inspiratoria y espiratoria con la particularidad de presentar estridor inspiratorio marcado. A raíz del fallecimiento del paciente, con la posterior necropsia e histopatología, se concluyó que el mismo presentaba una estenosis traqueal congénita segmentaria por ausencia de anillos traqueales.

Abstract Although congenital tracheal anomalies are not very common in veterinary medicine, they are still very important. Just as happens in human medicine, most possible variants are of very striking clinical presentation, due to the respiratory distress produced in patients. All require some type of surgical or minimally invasive correction in order to overcome the acute condition. Below is the case of a 10-month-old male feline that attended the emergency ward with acute inspiratory and expiratory dyspnea, who particularly presented marked inspiratory stridor. As a result of the patient’s decease and subsequent necropsy and histopathology it was concluded that he presented segmental congenital tracheal stenosis due to absence of tracheal rings.

Resumen Introducción y objetivo. La pérdida de función o la ausencia congénita de músculos del miembro superior puede afectar seriamente a la calidad de vida del paciente, limitando actividades cotidianas que requieren flexión o extensión del codo. Describimos nuestra experiencia con la técnica para reconstrucción dinámica de la flexión y extensión del codo mediante transferencia pediculada del músculo latissimus dorsi (LD). Material y método. Empleamos esta técnica en 2 casos y presentamos el protocolo de rehabilitación kinesiológica subsiguiente. Este protocolo se inicia de manera inmediata tras la cirugía con apoyo de férulas de inmovilización para la extremidad superior y progresa gradualmente hacia la movilización autoasistida según tolerancia del paciente. Después, se avanza a la movilización activa sin carga, dirigida a mejorar las actividades de la vida diaria y aumentar la movilidad articular del codo, cuantificada a través de goniometría. Finalmente, progresa hacia la movilización contra resistencia. Resultados. Los pacientes operados que sufrían pérdida traumática del músculo bíceps brachii y del tríceps brachii respectivamente, mostraron rápida recuperación funcional y satisfactoria reinserción laboral y social. Conclusiones. En nuestra experiencia, esta técnica ha sido una opción efectiva y segura en la restauración de la función del codo y la cobertura de extensos defectos cutáneos, evitando la necesidad de recurrir a colgajos libres

Abstract Background and objective. Loss of function or congenital absence of upper limb muscles can significantly impact a patient's quality of life, limiting everyday activities that require elbow flexion or extension. We describe the technique for dynamic reconstruction of elbow flexion and extension using pedicled transfer of the latissimus dorsi (LD) muscle. Methods. We present our experience with the use of this technique in 2 cases and describe the subsequent kinesiological rehabilitation protocol. This protocol is initiated immediately post-surgery, with the support of immobilization splints for the upper limb and gradually progresses to self-assisted mobilization based on patient tolerance. Subsequently, advancement is made to active load-free mobilization, aimed at enhancing daily life activities and increasing elbow joint mobility, quantified using goniometry. Finally, the rehabilitation regimen progresses to resistance-based mobilization. Results. Operated patients suffering traumatic loss of the biceps brachii and triceps brachii muscles respectively, exhibited rapid functional recovery and satisfactory reintegration into work and social life. Conclusions. In our experience, this surgical technique has demonstrated itself to be an effective and safe option in restoring elbow function and providing coverage for extensive cutaneous defects, eliminating the need for free flaps.

RESUMEN Se define la hiperplasia suprarrenal congénita como un grupo de enfermedades hereditarias autosómicas recesivas, producto de la alteración o la ausencia de las enzimas necesarias para la síntesis del cortisol en la corteza adrenal. Se trata de cinco tipos de deficiencias; la deficiencia de 21-hidroxilasa corresponde al 95% de los casos. Además de dichas deficiencias enzimáticas, dentro de las presentaciones clínicas existen casos atípicos, como la no perdedora de sodio y que fue captada en la consulta externa de medicina familiar, donde se hace una detección clínica oportuna, pero además de factores sociofamiliares implicados en el desenlace, dejando evidencia sólida de la gran importancia que tiene el trabajo transdisciplinario en la atención primaria en salud.

ABSTRACT Congenital adrenal hyperplasia is defined as a group of autosomal recessive hereditary diseases, product of the alteration or absence of the necessary enzymes for the synthesis of cortisol in the adrenal cortex, there are five types of deficiencies, the deficiency of 21- hydroxylase corresponds to 95% of the cases. In addition to those enzymatic deficiencies, within the presentations clinics, there are atypical cases, such as the non-losing of sodium, and that was captured in the family medicine outpatient clinic where timely clinical detection is made, but in addition to socio-family factors involved in the outcome, leaving solid evidence of the great importance of transdisciplinary work in primary health care.

Resumen: La ausencia unilateral de una rama de la arteria pulmonar (AURAP) es una entidad infrecuente y subdiagnosticada. Con expresión clínica variada sobre todo respiratoria, y más frecuentemente asociada a patología cardiaca congénita, puede presentarse aisladamente y permanecer asintomática largo tiempo. No hay consenso sobre su tratamiento, reservado a las complicaciones, principalmente hipertensión pulmonar, hemoptisis o infecciones respiratorias recurrentes. Objetivo: Describir dos casos de AURAP identificados en edades precoces, y la utilidad de las imágenes rutinarias para su diagnóstico. Casos Clínicos: Se presentan dos lactantes asintomáticos remitidos para evaluación cardiológica. El primero, con diagnóstico prenatal de arco aórtico derecho, derivado al mes de vida para descartar anomalías asociadas. En la ecocardiografía se constató AURAP izquierda aislada, apoyada con radiología básica. La angiotomografía confirmó AURAP e hipoplasia de pulmón izquierdo. Se decidió sólo seguimiento clínico. El segundo, neonato de 2 semanas derivado por hallazgo de soplo sistólico. Se diagnosticó ecocardiográficamente agenesia de rama pulmonar derecha sin otros defectos asociados, confirmado con angiotomografía. Radiografía torácica básica inicialmente sin alteraciones. En control a las 6 semanas se identificó colapso pulmonar derecho. Se decidió seguimiento clínico. Ambos casos fueron sospechados mediante ecocardiografía, se confirmaron con angiotomografía. Con 1,5 años y 6 meses respectivamente, presentaron buena evolución, buen crecimiento, y control estrecho de los procesos respiratorios intercurrentes. Conclusiones: La AURAP puede cursar sin síntomas cuando se presenta aisladamente, y pasar desapercibida. Mediante los métodos de imagen simple entre los que destaca la ecocardiografía puede sospecharse, debiendo confirmarse posteriormente mediante la realización de angiotomografía o angioresonancia.

Abstract: Unilateral absence of pulmonary artery (UAPA) is a rare and underdiagnosed entity. Due to its varied clinical expression, especially respiratory and most frequently associated with congenital heart disease, it can also present in isolation and remain asymptomatic for a long time. There is no consensus on its treatment, which is generally reserved for the presence of complications, mainly pulmonary hypertension, hemoptysis, or recurrent respiratory infections. Objective: To describe two cases of UAPA identified early in life, and the usefulness of routine imaging tests for its diagnosis. Clinical Cases: We present two clinical cases of asymptomatic children referred for pediatric cardiological assessment. The first one was 1 month old, with a prenatal diagnosis of right aortic arch, that was referred to rule out associated anomalies. An echocardiographic evaluation confirmed left isolated UAPA, sustained by plain radiography. CT angiography confirmed UAPA and left lung hypoplasia. Only clinical follow-up was determined. The second case is a 2-week-old neonate who was referred due to a systolic murmur. Right pulmonary artery agenesis was diagnosed by echocardiography with no other associated defects and was confirmed by CT angiography. Plain chest radiography showed no alterations initially, however, after 1.5 months of follow-up, right lung collapse was detected so clinical follow-up was decided. Both cases were suspected by echocardiography and confirmed by CT angiography. At 1.5 years and 6 months old, respectively, they show a good evolution, with good growth, and close monitoring of their intercurrent respiratory processes. Conclusions: UAPA can be asymptomatic when occurs in isolation and go unnoticed. Through simple imaging methods, especially echocardiography, it can be suspected and must be confirmed later by CT angiography or MRI angiography.