Surgically Treated Degenerative Lumbar Spine Diseases in Twins.

BACKGROUND: There is growing evidence to suggest a potential genetic component underlying the development and progression of lumbar spine diseases. However, the heritability and the concordance rates for the phenotypes requiring surgery for the common spine diseases lumbar spinal stenosis (LSS) and lumbar disc herniation (LDH) are unknown. The aim of this study was to determine the heritability and the concordance rates for LSS and LDH requiring surgery by studying monozygotic (MZ) and dizygotic (DZ) twin pairs. METHODS: Patients between 18 and 85 years of age who underwent surgery for LSS or LDH between 1996 and 2022 were identified in the national Swedish spine registry (LSS: 45,110 patients; LDH: 39,272 patients), and matched with the Swedish Twin Registry to identify MZ and DZ twins. Pairwise and probandwise concordance rates, heritability estimates, and MZ/DZ concordance ratios were calculated. RESULTS: We identified 414 twin pairs (92 MZ and 322 DZ pairs) of whom 1 or both twins underwent surgery for LSS. The corresponding number for LDH was 387 twin pairs (118 MZ and 269 DZ pairs). The probandwise concordance rate for LSS requiring surgery was 0.25 (26 of 105) (95% confidence interval [CI], 0.14 to 0.34) for MZ twins and 0.04 (12 of 328) (95% CI, 0.01 to 0.07) for DZ twins. The corresponding values for LDH requiring surgery were 0.03 (4 of 120) (95% CI, 0 to 0.08) and 0.01 (4 of 271) (95% CI, 0 to 0.04), respectively. The probandwise MZ/DZ concordance ratio was 6.8 (95% CI, 2.9 to 21.5) for LSS and 2.3 (95% CI, 0 to 8.9) for LDH. The heritability was significantly higher in LSS compared with LDH (0.64 [95% CI, 0.50 to 0.74] versus 0.19 [95% CI, 0.08 to 0.35]). CONCLUSIONS: Our findings suggest that genetic factors may play an important role in the risk of developing LSS requiring surgery, whereas heredity seems to be of less importance in LDH requiring surgery. LEVEL OF EVIDENCE: Prognostic Level III . See Instructions for Authors for a complete description of levels of evidence.

Surgically treated degenerative disk disease in twins.

PURPOSE: Previous studies have suggested that genetic factors are important in the development of degenerative disk disease (DDD). However, the concordance rates for the phenotypes requiring surgery are unknown. The purpose of this study was to determine the concordance rates for DDD requiring surgery by studying monozygotic (MZ) and dizygotic (DZ) twin pairs. METHODS: Patients, aged between 18 and 85 years, operated for DDD between 1996 and 2022 were identified in the national Swedish spine register (Swespine) and matched with the Swedish twin registry (STR) to identify MZ and DZ twins. Pairwise and probandwise concordance rates were calculated. RESULTS: We identified 11,207 patients, 53% women, operated for DDD. By matching the Swespine patients with the STR, we identified 121 twin pairs (37 MZ and 84 DZ) where one or both twins were surgically treated for DDD. The total twin incidence for operated DDD was 1.1%. For DDD requiring surgery, we found no concordant MZ pair and no concordant DZ pair where both twins were operated for DDD. When we evaluated pairs where at least one twin was operated for DDD, we found two concordant MZ pairs (the co-twins were operated for spinal stenosis) and two  concordant DZ pairs (one co-twin operated for spinal stenosis and one (co-twin operated for disk herniation). CONCLUSIONS: Our findings suggest that genetic factors are probably not a major etiologic component in most cases of DDD requiring surgery. The findings of this study can be used for counseling patients about the risk for requiring DDD surgery.

Complex Craniosynostosis in Pitt-Hopkins Syndrome: Case Report in Twins.

INTRODUCTION: Pitt-Hopkins syndrome (PTHS) is a rare genetic syndrome associated with neurodevelopmental disorders and craniofacial dysmorphisms caused by variations in the TCF4 transition factor. The aim of this article was to report the case of two twin infants diagnosed with PTHS, confirmed by the identification of a heterozygous pathogenic variant in the TCF4 gene through DNA extracted from a buccal swab. CASE PRESENTATION: Both infants presented with craniofacial asymmetry with a metopic crest and cranial deformity. During the diagnostic investigation, computed tomography with three-dimensional reconstruction of the skull showed premature fusion of the left coronal and metopic sutures in both twins. They underwent craniofacial reconstruction at the 9th month of age using a combination of techniques. The postoperative outcomes were satisfactory in both cases. CONCLUSION: To the best of our knowledge, this is the first case report to describe the occurrence of complex craniosynostosis (CCS) in children with PTHS. Further studies are needed to determine whether the co-occurrence of PTHS and CCS described here indicates an association or is explained by chance.

Presentación inusual de teratomas ováricos bilaterales en gemelas / Bilateral ovarian mature teratomas in twins: an unsual presentation

RESUMEN Los teratomas maduros son los tumores ováricos más frecuentes en edad pediátrica. A la fecha, se han descrito escasos reportes sobre su aparición en gemelas. Se presenta el caso de teratomas ováricos bilaterales en gemelas bicoriales, tratadas con tumorectomía laparoscópica. A los 45 días post-operatorios, ambas presentan recurrencia bilateral con marcadores tumorales negativos. Se realiza una nueva tumorectomía laparoscópica, cuyo estudio histopatológico confirma teratomas maduros. Presentan segunda recurrencia evidenciada en control imagenológico a los 2 meses post-quirúrgicos. Se plantea la posible asociación genética y/o familiar en la aparición de teratomas ováricos, la cual, hasta el momento, es prácticamente desconocida.

ABSTRACT Mature cystic teratomas are the most frequent ovarian tumor in children. There are few reports describing mature teratoma in twins to date. We present a case of bicorial twins with bilateral ovaric mature cystic teratoma treated with laparoscopic tumorectomy. 45 days after surgery, both present bilateral recurrence with negative tumor markers. The patients underwent a new laparoscopic tumor resection, where histopathological diagnosis confirms mature teratomas. Ultrasound control describes second recurrence 2 months after surgery. There is a possible genetic and/or family association in the presentation of ovarian teratomas, which currently, is unknown.

General anesthesia combined with erector spinae plane block for ductus arteriosus closure: two case reports / Anestesia geral associada a bloqueio do plano do músculo eretor da espinha para encerramento de persistência de canal arterial: dois relatos de caso

Abstract Background: Failure of ductus arteriosus closure in preterm neonates results in a left-to-right shunt that leads to variable severities of hemodynamic and respiratory distress. When medical therapy fails, surgical ligation via left lateral thoracotomy remains an alternative approach and can be performed in the operating room or at the bedside with a low mortality rate. Opioid-based anesthesia is a frequent choice among anesthesiologists who manage patent ductus arteriosus cases based on the suppression of the stress response and maintenance of hemodynamic stability. This rationale suggests that regional anesthesia may also be an advantageous technique and may benefit earlier weaning from ventilation. Blocking afferent signals before incision may also modulate the long-term consequences of altered sensory perception and pain responses. Case report: We present two cases of general anesthesia combined with erector spinae plane block as part of multimodal anesthesia in premature twins undergoing patent ductus arteriosus closure. Discussion: In these cases, the use of erector spine plane block combined with general anesthesia was efficient to minimize the negative impact of surgery and allowed a reduction in the amount of intraoperative opioid use for patent ductus arteriosus closure.

Resumo Justificativa: A persistência do canal arterial em neonatos prematuros resulta em shunt esquerdo-direito com alterações hemodinâmicas e desconforto respiratório de gravidade variável. Quando o tratamento clínico não é bem sucedido, o fechamento cirúrgico via toracotomia lateral esquerda continua sendo a abordagem alternativa, e pode ser realizado no centro cirúrgico ou à beira leito com baixa taxa de mortalidade. A anestesia baseada em opioides é frequentemente escolhida pelos anestesiologistas nos casos de fechamento de canal arterial devido à supressão de resposta ao estresse e manutenção da estabilidade hemodinâmica. Essa justificativa sugere que a anestesia regional também pode ser uma técnica vantajosa e que promove desmame mais precoce do ventilador. O bloqueio dos estímulos aferentes antes da incisão também pode modular os efeitos no longo-prazo, tanto da percepção sensorial quanto das respostas à dor. Relato de caso: Apresentamos dois casos de anestesia geral associada a bloqueio do plano do músculo eretor da espinha como parte de anestesia multimodal em gêmeos prematuros submetidos a fechamento de canal arterial persistente. Discussão: Nos dois casos descritos, o bloqueio do plano do músculo eretor da espinha associado à anestesia geral foi eficiente para minimizar o impacto negativo da cirurgia, e possibilitou a redução na quantidade de opioide usado durante cirurgia para fechamento de persistência canal arterial.

Transplante renal sem imunossupressão de manutenção. Pares monozigóticos e receptores de rim e medula óssea do mesmo doador / Renal transplantation without maintenance immunosuppression. Identical twins and kidney transplantation following a successful bone marrow graft

Resumo Pacientes que receberam transplantes renais sem imunossupressão de manutenção têm sido esporadicamente relatados. Os casos incluem relatos de pacientes não aderentes que suspenderam a medicação imunossupressora, transplantes entre gêmeos monozigóticos, transplante renal após um bem sucedido transplante de medula óssea do mesmo doador e transplante simultâneo de medula óssea e rim para tratamento de pacientes com mieloma múltiplo com insuficiência renal associada. Existem, atualmente, ensaios clínicos em andamento com o propósito de induzir tolerância imunológica específica ao doador utilizando a infusão de células hematopoiéticas do mesmo doador do enxerto renal. A seguir, descrevemos dois casos de transplante renal sem imunossupressão como exemplos de situações descritas acima.

Abstract Renal transplantation without maintenance immunosuppression has been sporadically reported in the literature. The cases include non-adherent patients who discontinued their immunosuppressive medications, transplantation between identical twins, kidney transplantation after a successful bone marrow graft from the same donor and simultaneous bone marrow and kidney transplantation for the treatment of multiple myeloma with associated renal failure. There are also ongoing clinical trials designed to induce donor specific transplant tolerance with infusion of hematopoietic cells from the same kidney donor. Here we describe two cases of renal transplantation without immunosuppression as examples of situations described above.

Trasplante de células progenitoras hematopoyéticas en anemia aplástica / Hematopoietic stem-cell transplantation in aplastic anemia

Severe aplastic anemia is a rare syndrome characterized by bone marrow failure with cytopenias and hypocellular bone marrow biopsy (usually 10-15%), without blasts or myelodysplasia. The first choice treatment for these patients is allogene-ic bone marrow transplantation from a sibling matched for HLA-A, HLA-B y HLA-DR. Unfortunately only 30% of patients have an HLA-matched sibling (a 25% chance per sibling). The alternative treatment for severe aplastic anemia for the rest of the patients (70%) is immunosuppression with antithymocyte globuline and cyclosporine. The evolution of bone marrow transplantation since 1970's has been positive in terms of survival and transplant success (initial overall survival 43% vs. 90% lately, and graft rejection of 29% vs. 4%). The favorable outcome of bone marrow transplantation for severe or very severe aplastic anemia is due to: the use of conditioning with antithymocyte globuline and cyclophosphamide, the use of graft-vs.-host disease prophylaxis with short curse methotrexate and cyclosporine and the use of filtrated and irradiated blood products. For those patients without an HLA-matched related donor the first treatment to use is the immunosuppression with antithymocyte globuline and cyclosporine. Another option emerged in the late 80's is the unrelated bone marrow transplantation, with survival hardly half of the HLA-identical related bone marrow transplants. In our country, the first allogeneic bone marrow transplant was done in the Instituto Nacional de Ciencias Médicas y Nutrición, Salvador Zubirán, in a patient with aplastic anemia, making possible to perform this procedure safely in our country.

La anemia aplástica grave (AAG) es una enfermedad poco frecuente caracterizada por un síndrome de falla medular con citopenias periféricas y médula ósea hipo o acelular, en ausencia de blastos y de mielodisplasia. El tratamiento de elección es el trasplante alogénico de médula ósea de donador relacionado. Este procedimiento sólo es posible en 30% de los pacientes, ya que el resto no cuenta con un donador. La otra alternativa de tratamiento es la inmunosupresión combinada, a base de ciclosporina A y globulina antitimocito (GAT). El trasplante alogénico de donador relacionado en AAG ha evolucionado favorablemente desde sus inicios en la década de los 70 a la fecha (supervivencia global inicial de 43% versus 90% actualmente, frecuencia de rechazo del injerto de 29 a 4%). Los factores que han condicionado este avance son: la utilización de acondicionamiento a base de ciclofosfamida/GAT, la utilización de profilaxis injerto contra huésped con ciclosporina A y metotrexato en curso corto (que han permitido una disminución en la tasa de rechazo y de enfermedad injerto contra huésped aguda) y la utilización de productos sanguíneos radiados y filtrados que disminuyen la sensibilización del receptor a antígenos menores de histocompatibilidad. Para aquellos pacientes que no cuentan con un donador HLA idéntico relacionado, la primera opción de tratamiento es la inmunosupresión combinada, sin embargo, desde finales de los 80s el trasplante alogénico de donadores no relacionados surgió como una opción de tratamiento, aunque sus resultados hasta hoy son inferiores a los obtenidos con trasplante alogénico de donador relacionado. En nuestro país se llevó a cabo el primer trasplante de médula ósea en el Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, lo que demostró que es factible realizar este procedimiento en nuestro medio.