Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi-based consensus survey of international experts.

BACKGROUND/OBJECTIVES: Ataxia telangiectasia (A-T) is a multiorgan disorder with increased vulnerability to cancer. Despite this increased cancer risk, there are no widely accepted guidelines for cancer surveillance in people affected by A-T. We aimed to understand the current international practice regarding cancer surveillance in A-T and agreed-upon approaches to develop cancer surveillance in A-T. DESIGN/METHODS: We used a consensus development method, the e-Delphi technique, comprising three rounds. Round 1 consisted of a Delphi questionnaire and a survey that collected the details of respondents' professional background, experience, and current practice of cancer surveillance in A-T. Rounds 2 and 3 were designed based on previous rounds and modified according to the comments made by the panellists. The pre-specified consensus threshold was ≥75% agreement. RESULTS: Thirty-five expert panellists from 13 countries completed the study. The survey indicated that the current practice of cancer surveillance varies widely between experts and centres'. Consensus was reached that evidence-based guidelines are needed for cancer surveillance in people with A-T, with separate recommendations for adults and children. Statements relating to the tests that should be included, the age for starting and stopping cancer surveillance and the optimal surveillance interval were also agreed upon, although in some areas, the consensus was that further research is needed. CONCLUSION: The international expert consensus statement confirms the need for evidence-based cancer surveillance guidelines in A-T, highlights key features that the guidelines should include, and identifies areas of uncertainty in the expert community. This elucidates current knowledge gaps and will inform the design of future clinical trials.

[Late diagnosis of spinal muscular atrophy in a patient with Down syndrome]. / Diagnóstico tardío de atrofia muscular espinal en paciente con síndrome de Down.

A case of a 6-year-old girl with Down's syndrome is presented. She was referred to our center due to a history of generalized muscle weakness of chronic evolution, associated to her inability to walk. Her mother claimed that the girl's muscle weakness always called her attention as well as the difficulties to the development of motor skills shown by her daughter compared to other children, whether they were healthy or with Down's syndrome. There was information in her medical record and physical exam that strongly suggested the possibility of suffering a neuromuscular disorder. We asked for a molecular study that confirmed the spinal muscular atrophy diagnosis. We carried out a bibliographical revision focusing on the expected neurological impairment in Down's syndrome, the retardation of the gross motor skills development determined for this kind of patients and on the findings that must suggest a neuromuscular disorder.

El síndrome de Down (SD) es la anomalía cromosómica más frecuente entre los recién nacidos vivos. La atrofia muscular espinal (AME), por su parte, es una enfermedad neuromuscular caracterizada por la degeneración progresiva de las motoneuronas del asta anterior de la médula espinal que produce atrofia muscular, debilidad y parálisis. Presentamos el caso de una niña de 6 años con síndrome de Down derivada a nuestro centro para estudio por cuadro de debilidad muscular generalizada de evolución crónica con falta de adquisición de la marcha. Realizamos una revisión bibliográfica enfocándonos en el compromiso neurológico esperable en el síndrome de Down, la evolución de los hitos del desarrollo motor grueso estipulado para este grupo de pacientes y en los hallazgos que deben sugerir la presencia de una enfermedad neuromuscular.

Manifestaciones neurológicas en pacientes pediátricos con síndrome urémico hemolítico / Neurological manifestations in pediatric patients with hemolytic uremic syndrome

[RESUMEN]. El síndrome urémico hemolítico (SUH) es una entidad endémica en nuestro país y constituye la primera causa de insuficiencia renal aguda en la edad pediátrica y la segunda de insuficiencia renal crónica. Se define por la aparición simultánea de anemia hemolítica microangiopática, trombocitopenia y daño parenquimatoso renal. Las manifestaciones iniciales incluyen insuficiencia renal aguda, hipertensión arterial y sintomatología neurológica hasta en un 30% de los casos aproximadamente. Dentro de las manifestaciones del sistema nervioso central se encuentran las convulsiones, irritabilidad, letargo, encefalopatía y coma. (1,2) Realizamos un estudio descriptivo, retrospectivo a partir de la revisión de historias clínicas de 53 pacientes menores de 16 años de edad, con diagnóstico de SUH derivados al servicio de pediatría, tanto cuidados intermedios como UTIP del Hospital El Cruce en el periodo de tiempo de enero del 2010 hasta septiembre del 2023 con el objetivo de describir la tasa de afectación neurológica y evaluar secuelas a largo plazo. Conclusiones: De los 53 niños con diagnóstico de SUH, 14 presentaron manifestaciones a nivel del SNC, es decir un 26% del total. Las manifestaciones que prevalecieron fueron las convulsiones y el estatus convulsivo. 3 de 14 pacientes permanecieron con secuelas neurológicas, los 11 restantes presentaron recuperación completa (89%). Si bien la afectación neurológica es menos común que la afectación renal, sigue siendo una causa de mortalidad aguda y discapacidad a largo plazo entre los pacientes con SUH.

[ABSTRACT]. Hemolytic uremic syndrome is an endemic entity in our country which establishes the main cause of acute kidney failure in children. It also represents the second cause of chronic kidney failure. Its main clinical manifestations are microangiopathic hemolytic anemia, thrombocytopenia and kidney injury. Early clinical manifestations are characterized by hypertension, acute kidney failure and neurological involvement in up to 30% of children with HUS. Seizures, irritability, lethargy, encephalopathy, and coma are the most common central nervous system manifestations. (1,2) We identified 53 children under the age of 16, between January 2010 and September 2023 with a confirmed diagnosis of SUH at El Cruce hospital . Patients came from intermediate care or had PICU admission. Our objective was to describe the neurological involvement rate in HUS and long term sequels. Of the 53 patients with HUS, 14 had central nervous system manifestations, which represents 26% of children with the diagnosis. Most frequent manifestations included seizures and convulsive status. 3 of 14 patients remained with neurological sequels, the last 11 showed total recovery. Even though Neurological involvement is less common than renal injury, it still represents one of the causes of acute mortality and long term disability in patients with HUS.

Diagnóstico tardío de atrofia muscular espinal en paciente con síndrome de Down / Late diagnosis of spinal muscular atrophy in a patient with Down syndrome

El síndrome de Down (SD) es la anomalía cromosómica más frecuente entre los recién nacidos vivos. La atrofia muscular espinal (AME), por su parte, es una enfermedad neuromuscular caracterizada por la degeneración progresiva de las motoneuronas del asta anterior de la médula espinal que produce atrofia muscular, debilidad y parálisis. Presentamos el caso de una niña de 6 años con síndrome de Down derivada a nuestro centro para estudio por cuadro de debilidad muscular generalizada de evolución crónica con falta de adquisición de la marcha. Realizamos una revisión bibliográfica enfocándonos en el compromiso neurológico esperable en el síndrome de Down, la evolución de los hitos del desarrollo motor grueso estipulado para este grupo de pacientes y en los hallazgos que deben sugerir la presencia de una enfermedad neuromuscular.

A case of a 6-year-old girl with Down's syndrome is presented. She was referred to our center due to a history of generalized muscle weakness of chronic evolution, associated to her inability to walk. Her mother claimed that the girl's muscle weakness always called her attention as well as the difficulties to the development of motor skills shown by her daughter compared to other children, whether they were healthy or with Down's syndrome. There was information in her medical record and physical exam that strongly suggested the possibility of suffering a neuromuscular disorder. We asked for a molecular study that confirmed the spinal muscular atrophy diagnosis. We carried out a bibliographical revision focusing on the expected neurological impairment in Down's syndrome, the retardation of the gross motor skills development determined for this kind of patients and on the findings that must suggest a neuromuscular disorder.

T3 receptors in human pituitary tumors.

OBJECTIVE: The purpose of this work was to investigate the synthesis of T3 receptors in human tumors of the anterior pituitary gland, its relationship with the hormone synthesized and/or secreted by the tumor and the post-surgical evolution of the patient. METHODS: Patients were evaluated clinically and by magnetic nuclear resonance to classify the adenoma according to their size. Hormonal concentrations in sera were determined by radioimmunoassay. Immunohistochemistry of the pituitary hormones was performed in the tumors. Tumors were obtained at surgery and immediately frozen in ice, transported to the laboratory and stored at -70 degrees C. Reverse transcription was performed with purified RNA from the tumors. RESULTS: Out of 33 pituitary tumors, 29 had RNA for T3 receptors synthesis (88%). They were present in different histological specimens, the tumors were grades 1-4 according to their size, and there was no relationship between the size of the tumor and the presence of T3 receptor RNAs. The post-surgical evolution of the patient was mostly dependent on the size and not on the presence of T3 receptors. DISCUSSION: The presence of thyroid hormone receptors in pituitary tumors is in line with two important characteristics of these tumors: they are histologically benign and well differentiated.