Enfermedad de Von Willebrand adquirida en un Mieloma múltiple: reporte de caso

La Enfermedad de Von Willebrand adquirida (EVW adquirida) es un trastorno hemorrágico adquirido poco frecuente, con características clínicas y de laboratorio similares a la Enfermedad de Von Willebrand congénita. Asociándose con enfermedades hemato-oncológicas, autoinmunes, cardiovasculares y tumores sólidos. Las gammapatías monoclonales constituyen un grupo heterogéneo de trastornos caracterizados por la proliferación de linfocitos B en los últimos estadios madurativos o células plasmáticas que preservan la capacidad de producir una inmunoglobulina (Ig) monoclonal o alguno de sus componentes. Como consecuencia, se produce la aparición de una paraproteína o componente M (CM) en suero y/o orina que estará formado por la misma cadena pesada o ligera, y por regiones variables idénticas. Se presenta el caso de una mujer de 57 años, que se presenta con un síndrome hemorragíparo, alteración de la crasis en su vía intrínseca, donde se diagnostica EVW adq secundaria a Mieloma Múltiple (MM) con CM IgM 5,9 g/dl. El tratamiento tuvo como objetivos detener el sangrado, prevenir complicaciones y abordar precozmente la patología hemato-oncológica causante. Para su abordaje requirió la realización de recambios plasmáticos terapéuticos (RPT) que tuvieron un rol de acción terapéutica temprana y eficaz con excelente tolerancia. Ante el diagnóstico se inició rápidamente poliquimioterapia siendo ésta una paciente candidata a trasplante de progenitores hematopoyéticos. El objetivo de la presentación de este caso clínico es destacar la importancia de un correcto y oportuno diagnóstico ante la sospecha clínica de una coagulopatía secundaria a una enfermedad hemato-oncológica subyacente. Por lo que hacemos énfasis en el abordaje multidisciplinario.

Acquired von Willebrand disease (AVWS) is a rare acquired bleeding disorder with clinical and laboratory features similar to congenital von Willebrand disease. Associated with hemato-oncological, autoimmune, cardiovascular diseases and solid tumors. Monoclonal gammopathies constitute a heterogeneous group of disorders characterized by the proliferation of B lymphocytes in the last stages of maturation or plasma cells that preserve the capacity to produce a monoclonal immunoglobulin (Ig) or one of its components. As a consequence, the appearance of a paraprotein or M component (CM) occurs in serum and/or urine, which will be formed by the same heavy or light chain, and by identical variable regions. We present the case of a 57-year-old woman, who presented with a hemorrhagic parous syndrome, alteration of the crasis in its intrinsic way, where Acquired Von Willebrand Disease secondary to Multiple Myeloma is diagnosed. Treatment was aimed at stopping the bleeding, preventing complications, and promptly addressing the underlying hemato-oncological pathology. For its approach, it required the performance of therapeutic plasma exchanges that had a role of early and effective therapeutic action with excellent tolerance. Given the diagnosis, polychemotherapy was quickly started, this patient being a candidate for hematopoietic stem cell transplantation. The objective of presenting this clinical case is to highlight the importance of a correct and timely diagnosis in the face of clinical suspicion of a coagulopathy secondary to an underlying hemato-oncological disease. Therefore, we emphasize the multidisciplinary approach.

A doença de von Willebrand adquirida (EVW acq, AVWS) é um distúrbio hemorrágico adquirido raro com características clínicas e laboratoriais semelhantes à doença de von Willebrand congênita. Associado a doenças hemato-oncológicas, autoimunes, cardiovasculares e tumores sólidos. As gamopatias monoclonais constituem um grupo heterogêneo de distúrbios caracterizados pela proliferação de linfócitos B nos últimos estágios de maturação ou plasmócitos que preservam a capacidade de produzir uma imunoglobulina monoclonal (Ig) ou um de seus componentes. Como consequência, ocorre o aparecimento de uma paraproteína ou componente M (CM) no soro e/ou na urina, que serão formados pela mesma cadeia pesada ou leve, e por regiões variáveis idênticas. Apresentamos o caso de uma mulher de 57 anos, que apresentava um síndroma hemorrágico, alteração da crase na sua via intrínseca, onde é diagnosticada Doença de Von Willebrand Adquirida secundária a Mieloma Múltiplo. O tratamento visava estancar o sangramento, prevenir complicações e abordar prontamente a patologia hemato-oncológica subjacente. Para sua abordagem, exigiu a realização de plasmaférese terapêutica que teve papel de ação terapêutica precoce e efetiva com excelente tolerância. Diante do diagnóstico, rapidamente foi iniciada poliquimioterapia, sendo este paciente candidato a transplante de células-tronco hematopoiéticas. O objetivo da apresentação deste caso clínico é realçar a importância de um diagnóstico correto e atempado face à suspeita clínica de uma coagulopatia secundária a uma doença hemato-oncológica subjacente. Portanto, enfatizamos a abordagem multidisciplinar.

Infrared spectroscopy as a new approach for early fabry disease screening: a pilot study.

BACKGROUND: Fabry disease (FD) is a rare X-linked lysosomal storage disorder marked by alpha-galactosidase-A (α-Gal A) deficiency, caused by pathogenic mutations in the GLA gene, resulting in the accumulation of glycosphingolipids within lysosomes. The current screening test relies on measuring α-Gal A activity. However, this approach is limited to males. Infrared (IR) spectroscopy is a technique that can generate fingerprint spectra of a biofluid's molecular composition and has been successfully applied to screen numerous diseases. Herein, we investigate the discriminating vibration profile of plasma chemical bonds in patients with FD using attenuated total reflection Fourier-transform IR (ATR-FTIR) spectroscopy. RESULTS: The Fabry disease group (n = 47) and the healthy control group (n = 52) recruited were age-matched (39.2 ± 16.9 and 36.7 ± 10.9 years, respectively), and females were predominant in both groups (59.6% and 65.4%, respectively). All patients had the classic phenotype (100%), and no late-onset phenotype was detected. A generated partial least squares discriminant analysis (PLS-DA) classification model, independent of gender, allowed differentiation of samples from FD vs. control groups, reaching 100% sensitivity, specificity and accuracy. CONCLUSION: ATR-FTIR spectroscopy harnessed to pattern recognition algorithms can distinguish between FD patients and healthy control participants, offering the potential of a fast and inexpensive screening test.

Comprehensive Approach for the Genetic Diagnosis of Patients with Waardenburg Syndrome.

Waardenburg syndrome (WS) is a common genetic cause of syndromic hearing loss, accounting for 2-5% of congenital cases. It is characterized by hearing impairment and pigmentation abnormalities in the skin, hair, and eyes. Seven genes are associated with WS: PAX3, MITF, EDNRB, EDN3, SOX10, KITLG, and SNAI2. This study investigates the genetic causes of WS in three familial cases. Whole-exome sequencing (WES) was performed to identify single nucleotide variants (SNVs). Copy number variants (CNVs) were analyzed from the WES raw data and through multiplex ligation-dependent probe amplification (MLPA). The study identified one pathogenic SNV and two novel CNVs, corresponding to type I and type II WS patterns in the three families. The SNV, a nonsense variant (c.1198C>T p.Arg400*), was found in MITF and segregated in the affected father. The two CNVs were a deletion of exon 5 in PAX3 in a family with two affected members and a large novel deletion comprising seven genes, including SOX10, in a family with three affected members. These findings confirmed a WS diagnosis through genetic testing. The study emphasizes the importance of integrating multiple genetic testing approaches for accurate and reliable diagnosis, highlighting their role in improving patient management and providing tailored genetic counseling.

Modified Senning Procedure for Treatment of Transposition of the Great Arteries with Crisscross Heart.

CLINICAL DATA: A nine-month-old female infant diagnosed with transposition of the great arteries with symptoms of heart failure associated with cyanosis and difficulty in gaining weight was referred to our center with late diagnosis (at nine months of age). CHEST RADIOGRAPHY: Cardiomegaly; attenuated peripheral vascular markings.Electrocardiography: Sinus rhythm with biventricular overload and aberrantly conducted supraventricular extra systoles. ECHOCARDIOGRAPHY: Wide atrial septal defect, ventricular axis torsion with concordant atrioventricular connection and discordant ventriculoarterial connection. COMPUTED TOMOGRAPHY ANGIOGRAPHY: Concordant atrioventricular connection, right ventricle positioned superiorly and left ventricle positioned inferiorly; discordant ventriculoarterial connection with right ventricle connected to the aorta and left ventricle connected to pulmonary artery. DIAGNOSIS: Crisscross heart is a rare congenital heart defect, accounting for 0.1% of congenital heart diseases. It consists of the 90º rotation of ventricles' axis in relation to their normal position; therefore, ventricles are positioned in the superior-inferior direction rather than anterior-posterior. Most cases have associated cardiac anomalies, and in this case, it is associated with transposition of the great arteries. The complexity and rarity of its occurrence make diagnosis and surgical treatment challenging. OPERATION: Modified Senning procedure using the pericardial sac in the construction of a tunnel from pulmonary veins to the right atrium. Cardiopulmonary bypass time of 147 minutes with nine minutes of total circulatory arrest.

Pediatric shunt failure in a resource limited Lower-Middle Income Country (LMIC) institution in La Paz, Bolivia.

BACKGROUND: Shunt failure is an undesirable but common occurrence following neurosurgical shunting for pediatric hydrocephalus. Little is known about the occurrence of failure in lower-middle income country (LMIC) settings in South America. The objective of this study was to evaluate shunt failure in the sole publicly funded pediatric hospital in La Paz, Bolivia, with limited resources. METHODS: A retrospective review of all patients at the Children's Hospital of La Paz, Bolivia (Hospital del Niño "Dr. Ovidio Aliaga Uria"), was conducted to identify all patients whose index surgical shunting for hydrocephalus was performed between 2019 and 2023. Categorical, continuous, and shunt failure data were statistically summarized. RESULTS: A total of 147 unique pediatric patients underwent index ventriculoperitoneal shunting for hydrocephalus in the study period. There were 90 (61%) male and 57 (39%) female patients, with a median age of 2.2 months at index shunting procedure. The most common surgical indications were congenital hydrocephalus (n = 95, 65%), followed by hydrocephalus secondary to congenital defect (n = 25, 17%) and tumor (n = 18, 12%). A total of 18 (12%) of patients experienced inpatient failure during index admission requiring surgical revision at a median time of 12.5 days after index shunting. Postoperative imaging (OR 2.97, P = 0.037) and postoperative infection (OR 3.26, P = 0.032) during index admission both independently and statistically predicted inpatient failure. Of the 96 patients (65%) with postoperative follow-up, 16 (n = 16/96, 17%) patients experienced outpatient failure requiring readmission to hospital and surgical revision at a median time of 3.7 months after discharge. Kaplan-Meier estimations of overall inpatient and outpatient failure in this cohort were 23% (95% CI 14-37) and 28% (95% CI 15-49), respectively. CONCLUSIONS: Both inpatient and outpatient shunt failures are significant complications in the management of pediatric hydrocephalus in La Paz, Bolivia. We identify multiple avenues to improve these outcomes which are institution-specific based on the review of these failures. Lessons learnt may be applicable to other similarly resourced institutions across South American LMICs.

Transcervical uterine flushing and embryo transfer in sheep: Morphophysiological basis for approaches currently used, major challenges, potential improvements, and new directions (alas, including some old ideas).

At present, the success of non-surgical embryo recovery (NSER) and transfer (NSET) hinges upon the cervical passage of catheters, but penetration of the uterine cervix in ewes is problematic due to its anatomical structure (i.e., long and narrow cervical lumen with misaligned folds and rings). It is a major obstacle limiting the widespread application of NSER and NSET in sheep. While initial attempts to traverse the uterine cervix focused on adapting or re-designing insemination catheters, more recent studies demonstrated that cervical relaxation protocols were instrumental for transcervical penetration in the ewe. An application of such protocols more than tripled cervical penetration rates (currently at 90-95 %) in sheep of different breeds (e.g., Dorper, Lacaune, Santa Inês, crossbred, and indigenous Brazilian breeds) and ages/parity. There is now sufficient evidence to suggest that even repeatedly performed cervical passages do not adversely affect overall health and reproductive function of ewes. Despite these improvements, appropriate selection of donors and recipients remains one of the most important requirements for maintaining high success rates of NSER and NSET, respectively. Non-surgical ovine embryo recovery has gradually become a commercially viable method as even though the procedure still cannot be performed by untrained individuals, it is inexpensive, yields satisfactory results, and complies with current public expectations of animal welfare standards. This article reviews critical morphophysiological aspects of transcervical embryo flushing and transfer, and the prospect of both techniques to replace surgical methods for multiple ovulation and embryo transfer (MOET) programs in sheep. We have also discussed some potential pharmacological and technical developments in the field of non-invasive embryo recovery and deposition.

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).

Case report: Is bilateral renal dioctophymosis and severe uremia in a dog synonymous of euthanasia? Not today.

A dog with bilateral renal dioctophymosis presented with stage 5 acute kidney injury, weight loss, vomiting, apathy, and hematuria. Laboratory tests showed creatinine of 17.2 mg/dL and Dioctophyme renale eggs in the urine. It underwent a 30-min session of hyperbaric oxygen preconditioning at a pressure of 2 ATA. Subsequently, bilateral nephroscopy was performed, without warm ischemia, using Amplatz-type renal dilators. Five parasites were removed, three females from the right kidney, one female from the left kidney, and one male from the abdominal cavity. After surgery, the patient continued doing daily hyperbaric oxygen therapy (HBOT) sessions and clinical therapy. Postoperative care consisted of analgesics, antimicrobials, antioxidants, gastric protector and fluid therapy. Ultrasound monitoring showed a reduction in the area of renal dilation and the hematological and biochemical tests showed rapid recovery from acute kidney injury. There was no bacterial growth in the urine sample collected directly from the kidneys. The patient had an excellent clinical progression and was discharged from hospital 7 days postoperatively, with creatinine values of 2.9 mg/dL. This is the first report of the use of nephroscopy in the treatment of dioctophymosis and indicates excellent chances of cure even in severe cases of bilateral parasitosis. HBOT was shown to be an ally in the clinical therapy of patients with D. renale by helping with stabilization and postoperative recovery.

Increased Osteoblastic and Osteocytic in Vitro Cell Viability by Yerba Mate (Ilex paraguariensis).

BACKGROUND: Yerba mate (YM, Ilex paraguariensis) consumption beneficially affects the bones. However, whether YM components exert their effect on bone cells directly remains elusive. METHODS: We evaluated how main YM components affect osteoblastic (MC3T3-E1) and osteocytic (MLO-Y4) cells in vitro when administered separately or in an aqueous extract. MC3T3-E1 and MLO-Y4 cells were exposed to three different experimental conditions: (1) Caffeine, chlorogenic acid, and their combinations; (2) Caffeine, rutin, and their combinations; (3) Aqueous YM extract. RESULTS: All polyphenol and caffeine concentrations as well as that of their tested combinations significantly increased MC3T3-E1 cell viability from 16.6% to 34.8% compared to the control. In MLO-Y4 cells, the lowest rutin and the two highest caffeine concentrations significantly increased cell viability by 11.9, 14.9, and 13.7%, respectively. While rutin and caffeine combinations tended to increase MLO-Y4 cell viability, different chlorogenic acid and caffeine combinations did not affect it. Finally, the aqueous YM extract significantly increased MLO-Y4, MC3T3-E1, and differentiated MC3T3-E1 cell viability compared to the control without treatment. CONCLUSIONS: YM components (rutin, chlorogenic acid, and caffeine) positively affected bone cells, mainly pre-osteoblast cells. Moreover, the aqueous YM extract significantly increased MLO-Y4, MC3T3-E1, and differentiated MC3T3-E1 cell viabilities indicating an additional relevant nutritional property of YM infusion. Further studies would be required to elucidate the underlying effector mechanism of YM on the bones and its relationship with previously described in vivo positive effects.

Effects of Hyperbaric Oxygen Therapy on Hemogram, Serum Biochemistry and Coagulation Parameters of Dogs Undergoing Elective Laparoscopic-Assisted Ovariohysterectomy.

BACKGROUND: This study explored the effects of hyperbaric oxygen therapy (HBOT) on hemogram, serum biochemistry and hemostatic variables in female dogs undergoing laparoscopic-assisted ovariohysterectomy (OVH). MATERIALS: Thirty adult, mixed-breed, healthy female dogs were randomly divided into the following three groups: HBOT + SURG (exposed to two absolute atmospheres (ATAs) for 45 min followed by laparoscopic-assisted OVH), HBOT (exposed to two ATAs for 45 min) and SURG (laparoscopic-assisted OVH). Blood samples were collected at T0 (at the admission), at T1, 24 h after T0 (immediately after HBOT in the HBOT + SURG and HBOT groups, and immediately before anesthetic premedication in the SURG group), and at T2, 48 h after T0 (24 h after HBOT and anesthetic premedication). METHODS: Assessments included erythrogram, leukogram, thrombogram, renal and hepatic serum biochemistry, prothrombin time (PT), activated partial thromboplastin time (APTT), buccal mucosal bleeding time (BMBT) and bloodstain area (BA) on hygroscopic paper collected at the BMBT. RESULTS: Both the HBOT + SURG and SURG groups presented neutrophilia (p ≤ 0.0039) at T2 and an increase of ALP at T2 (p ≤ 0.0493), the SURG group presented an increase in leukocyte count at T2 (p = 0.0238) and the HBOT + SURG group presented a reduction in lymphocyte count at T2 (p = 0.0115). In the HBOT + SURG group, there was a reduction in PT and APTT in relation to the baseline value (p ≤ 0.0412). CONCLUSIONS: A session of HBOT at two ATAs for 45 min did not cause changes in the BMBT or BA in healthy female dogs. Some blood parameters investigated (neutrophil and lymphocyte count, ALP, PT and APTT) were affected by the use of HBOT.

Assessing pediatric neurosurgery capacity in La Paz, Bolivia: an illustrative institutional experience of a lower-middle-income country in South America.

OBJECTIVE: The current pediatric neurosurgery capacity in lower-middle-income countries (LMICs) in South America is poorly understood. Correspondingly, the authors sought to interrogate the neurosurgical inpatient experience of the sole publicly funded pediatric hospital in one of the largest regional departments of Bolivia to better understand this capacity. METHODS: A retrospective review of all neurosurgical procedures performed at the Children's Hospital of La Paz, Bolivia (Hospital del Niño "Dr. Ovidio Aliaga Uria") between 2019 and 2023 was conducted after institutional approval using a recently implemented national electronic medical record system. RESULTS: A total of 475 neurosurgical admissions satisfied inclusion for analysis over the 5-year span. The majority of admissions were from within the La Paz Department (87%) via the emergency department (77%), without private insurance (83%). The most common indications for neurosurgical intervention were trauma (35%), followed by hydrocephalus (28%), congenital disease (12%), infection (5%), and craniosynostosis (3%). Overall, the median age at time of surgery was 2.0 years, and the median operating time was 1.5 hours with a minority of intraoperative complications (2%). The most common inpatient complication was unplanned return to the operating room (19%), most commonly seen in congenital indications. At final discharge, the median postoperative length of stay was 10 days. Twenty-seven (6%) of the 475 patients died during hospitalization, most commonly seen in tumor indications. Of the 448 patients who were discharged, 299 (67%) returned for at least one follow-up appointment. CONCLUSIONS: There is restricted breadth in neurosurgical indications and outcomes achievable at the Children's Hospital of La Paz, Bolivia. As such, the capacity of pediatric neurosurgery at institutions in LMICs in South America such as this one is very limited. Identifying and prioritizing actionable interventions to improve this capacity is institution- and LMIC-dependent, and as such, future efforts will need to be tailored appropriately.

Unveiling the truth: is COVID-19 reimbursement in Colombia a flawed design? A cost-of-illness analysis for moderate, severe and critical infections.

PURPOSE: This study examines the financial impact of the COVID-19 pandemic on the Colombian Health System, focusing on the adequacy of reimbursement rates for inpatient stays. The study, based on a cost of illness analysis, aims to evaluate the effectiveness of the reimbursement scheme and identify potential economic losses within the health system. PATIENTS AND METHODS: The study protocol outlines the inclusion criteria for patients >18 years with confirmed COVID-19 infection and moderate to critical disease. Patients hospitalised between June 2020 and June 2021 for at least 24 hours were included. Exclusion criteria involved pregnant patients and those initially hospitalised for non-COVID-19. RESULTS: The study included 781 patients contributing to 790 hospitalisations. Demographic and clinical characteristics were analysed, with critical illness being the most prevalent category (61%). The overall mortality rate was 20.3%, primarily observed in critically ill patients. In the general ward for moderate cases, the reimbursement rate saw a substantial increase from US$3237 in 2020 to US$6760 in 2021, surpassing median resource utilisation. However, for severe cases in the intermediate care unit, reimbursement rates decreased, indicating potential insufficiency in covering costs. In the intensive care unit for critical cases, despite improved reimbursement rates, median resource utilisation still exceeds the 2021 rate, suggesting financial insufficiency in reimbursement rates. CONCLUSION: Our study underscores the inadequacies of the previous reimbursement system in addressing the varying resource utilisation and costs associated with COVID-19 inpatient care. Our analysis reveals substantial discrepancies between estimated costs and actual resource utilisation, particularly for severe and critical cases. We advocate for government flexibility in revising reimbursement baskets, supported by pilot studies to assess effectiveness. The use of real-world evidence forms a crucial basis for informed adjustments to reimbursement levels in preparation for future pandemics. This proactive approach ensures alignment between reimbursement policies and the actual costs associated.

Characterization of Retinoblastoma Patients in a Referral Center on the Colombian North Coast / Caracterización de pacientes con retinoblastoma en un centro de referencia de la costa norte de Colombia

ABSTRACT Purpose: The purpose of the following study was to describe the sociodemographic, clinical, and therapeutic characteristics of patients with retinoblastoma (RB), the most common intraocular tumor in children, receiving medical care in an eyecare institution in the Caribbean region of Colombia. Methods: A case series between 2016 and 2021 was carried out. Eyes of patients with RB, receiving medical care in a single health care institution, and in compliance with the established follow-up protocol, were included. Descriptive analyzes of relevant variables were performed. Results: In this study, a total of 21 eyes of 16 patients were examined. The average age at the time of diagnosis was 17.7 months, and 50% of children were male. Using the International Classification for Intraocular Retinoblastoma, 42.9% of the total cases were classified as group D. Out of the 21 cases, 71.4% went into total remission without the necessity for enucleation, and the most common treatment was chemotherapy, using Melphalan® via intraarterial or intravitreal administration. Conclusion: Specific findings of patients with RB in the Caribbean Coast of Colombia were identified. These findings imply that, despite the obstacles to healthcare access, an early diagnosis and a treatment plan using intraarterial chemotherapy may provide a satisfactory clinical outcome (remission).

RESUMEN. Objetivo: El propósito del siguiente estudio fue describir las características sociodemográ-ficas, clínicas y terapéuticas de los pacientes con retinoblastoma (RB), el tumor intraocular más frecuente en niños, que reciben atención médica en una institución oftalmológica de la región Caribe de Colombia. Métodos: Se realizó una serie de casos entre 2016 y 2021. Se incluyeron ojos de pacientes con RB, que recibían atención médica en una sola institución de salud y cumplían con el protocolo de seguimiento establecido. Se realizaron análisis descriptivos de variables relevantes. Resultados: En este estudio se examinaron un total de 21 ojos de 16 pacientes. La edad media en el momento del diagnóstico fue de 17,7 meses y el 50% de los niños eran varones. Utilizando la Clasificación Internacional para el retinoblastoma intraocular, el 42,9% del total de los casos se clasificaron en el grupo D. De los 21 casos, el 71,4% entraron en remisión total sin necesidad de enucleación, y el tratamiento más habitual fue la quimioterapia con Melfalán® vía intraarterial o intravítrea. Conclusiones: Se identificaron hallazgos específicos de pacientes con RB en la costa caribe de Colombia. Estos hallazgos implican que, a pesar de los obstáculos en el acceso a la salud, un diagnóstico temprano y un plan de tratamiento con quimioterapia intraarterial pueden proporcionar un resultado clínico satisfactorio (remisión).

Pediatric neurosurgical medulloblastoma outcomes in La Paz, Bolivia: How a Lower Middle-Income Country (LMIC) institution in South America compares to the United States.

BACKGROUND: How pediatric medulloblastoma patients fare in Lower Middle-Income Country (LMICs) in South America is not well understood. Correspondingly, the aim of this study was to summarize the pediatric neurosurgical experience of an institution in La Paz, and compare outcomes to that of a generalized High Income Country (HIC) United States (US) experience. METHODS: A retrospective review of all pediatric neurosurgical medulloblastoma patients at the Children's Hospital of La Paz, Bolivia (Hospital del Niño "Dr. Ovidio Aliaga Uria") between 2014 and 2023 was conducted and compared to a generalized US experience abstracted from the US National Cancer Database (NCDB) and National Inpatient Sample (NIS) databases. Categorical, continuous and survival data were statistically summarized and compared. RESULTS: A total of 24 pediatric medulloblastoma patients underwent neurosurgical treatment at the Hospital del Niño. In this La Paz cohort, there were 15 (63%) males and 9 (38%) females, with a mean age of 5.6 years old at diagnosis. The majority of patients underwent subtotal resection (STR, 79%), while the remaining patients underwent biopsy only. Ten (42%) patients expired during their hospitalization, and mean length of stay overall was 39 days. Only 8 (33%) patients received adjuvant treatment after surgery. Median overall survival from diagnosis in the La Paz cohort was 1.9 months. Compared to the US databases, the La Paz cohort experienced significantly more emergency room admissions for surgery, less gross total resection, more STR, more return to operating room for ventriculoperitoneal shunting, more bacteremia, more tracheostomy procedures, more percutaneous gastrostomy placements, longer lengths of stay, less adjuvant chemotherapy, less radiation therapy, shorter follow-up, and ultimately, significantly shorter overall survival (all P < 0.050). CONCLUSIONS: Pediatric neurosurgical medulloblastoma outcomes at the Children's Hospital of La Paz, Bolivia are significantly inferior to that of a generalized US experience. Future research is required to identify institution- and country-specific initiatives to improve discrepancies between institutions in LMICs in South America compared to HICs.

Low oxygen tension during in vitro embryo production improves the yield, quality, and cryotolerance of bovine blastocysts.

Mammalian oocytes undergo maturation and fertilization in the low-oxygen (O2) environment of the oviduct. To evaluate the effect of O2 tension during in vitro maturation and fertilization on embryo yield, quality, cryotolerance, and gene expression, we matured and fertilized bovine cumulus-oocyte complexes under low (5%) or high (20%) O2 tension. Presumptive zygotes from both groups were cultured at 5% O2 for 8 days. Blastocysts were vitrified, and then warmed, and cultured for further 24 h to assess their cryotolerance. Our findings indicate that low O2 during maturation and fertilization enhances embryo development and cell count in both fresh and vitrified/warmed blastocysts. In this study, the interaction of O2 tension and status (fresh or vitrified/warmed) affected the transcript abundance of SOD2, AQP3, and BAX in blastocysts. These results highlight the role of low O2 tension during bovine maturation and fertilization and provide support to using 5% O2 throughout all stages of bovine in vitro embryo production.

Role of Computed Tomography Angiography in the Short-Term Follow-up of Aortic Coarctation Repair.

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.

Fast screening using attenuated total reflectance- fourier transform infrared (ATR-FTIR) spectroscopy of patients based on D-dimer threshold value.

Attenuated Total Reflectance-Fourier transform infrared (ATR-FTIR) spectroscopy is an emerging technology in the medical field. Blood D-dimer was initially studied as a marker of the activation of coagulation and fibrinolysis. It is mainly used as a potential diagnosis screening test for pulmonary embolism or deep vein thrombosis but was recently associated with COVID-19 severity. This study aimed to evaluate the use of ATR-FTIR spectroscopy with machine learning to classify plasma D-dimer concentrations. The plasma ATR-FTIR spectra from 100 patients were studied through principal component analysis (PCA) and two supervised approaches: genetic algorithm with linear discriminant analysis (GA-LDA) and partial least squares with linear discriminant (PLS-DA). The spectra were truncated to the fingerprint region (1800-1000 cm-1). The GA-LDA method effectively classified patients according to D-dimer cutoff (≤0.5 µg/mL and >0.5 µg/mL) with 87.5 % specificity and 100 % sensitivity on the training set, and 85.7 % specificity, and 95.6 % sensitivity on the test set. Thus, we demonstrate that ATR-FTIR spectroscopy might be an important additional tool for classifying patients according to D-dimer values. ATR-FTIR spectral analyses associated with clinical evidence can contribute to a faster and more accurate medical diagnosis, reduce patient morbidity, and save resources and demand for professionals.

Submerged cultivation of Nigrospora sp. in batch and fed-batch modes for microbial oil production.

Microbial lipids are a valuable source of potential biofuels and essential polyunsaturated fatty acids. The optimization of the fermentation conditions is a strategy that affects the total lipid concentration. The genus Nigrospora sp. has been the target of investigations based on its potential bioherbicidal action. Therefore, this study developed a strategy to maximize the biomass concentration and lipid accumulation by Nigrospora sp. in submerged fermentation. Different media compositions and process variables were investigated in shaken flasks and bioreactor in batch and fed-batch modes. Maximum biomass concentration and lipid accumulations were 40.17 g/L and 21.32 wt% in the bioreactor, which was 2.1 and 5.4 times higher than the same condition in shaken flasks, respectively. This study presents relevant information to the production of fungal lipids since few investigations are exploring the fed-batch strategy to increase the yield of fungi lipids, as well as few studies investigating Nigrospora sp. to produce lipids.

Role of Computed Tomography Angiography in the Short-Term Follow-up of Aortic Coarctation Repair

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.