Generation of an induced pluripotent stem cell line (UNCCi002-A) from a healthy donor using a non-integration system to study Cerebral Cavernous Malformation (CCM).

The generation of induced pluripotent stem cells (iPSCs) from healthy individuals is an invaluable resource as reference control in disease modeling and drug discovery. This paper details the reprogramming of peripheral blood mononuclear cells (PBMCs) isolated from a healthy 27 years-old male using non-integration technology. The derived iPSCs displayed typical pluripotent stem cell morphology, the capacity to differentiate into the three germ layers, and normal karyotype. This iPSC line will be used as a reference control to study the Cerebral Cavernous Malformation disease mechanism.

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.

SPTBN1 encodes ßII-spectrin, the ubiquitously expressed ß-spectrin that forms micrometer-scale networks associated with plasma membranes. Mice deficient in neuronal ßII-spectrin have defects in cortical organization, developmental delay and behavioral deficiencies. These phenotypes, while less severe, are observed in haploinsufficient animals, suggesting that individuals carrying heterozygous SPTBN1 variants may also show measurable compromise of neural development and function. Here we identify heterozygous SPTBN1 variants in 29 individuals with developmental, language and motor delays; mild to severe intellectual disability; autistic features; seizures; behavioral and movement abnormalities; hypotonia; and variable dysmorphic facial features. We show that these SPTBN1 variants lead to effects that affect ßII-spectrin stability, disrupt binding to key molecular partners, and disturb cytoskeleton organization and dynamics. Our studies define SPTBN1 variants as the genetic basis of a neurodevelopmental syndrome, expand the set of spectrinopathies affecting the brain and underscore the critical role of ßII-spectrin in the central nervous system.

Adjuvant therapies in the management of medication-related osteonecrosis of the jaws: Systematic review.

BACKGROUND: We investigated the efficacy of hyperbaric oxygen (HBO), low-intensity laser (LIL), and platelet-rich plasma (PRP) in the management of medication-related osteonecrosis of the jaws (MRONJ). METHODS: A literature search was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement. Two examiners independently assessed eligibility and risk of bias and extracted data. RESULTS: There was improvement in 75.6% of the 41 patients submitted to HBO, with positive effects on pain relief and decreased size and number of lesions at a faster rate, with better effects when the drug was discontinued. For LIL, 158 (64.2%) of the 246 patients/sites improved the symptoms and 98 (39.8%) healed completely. Fourteen (17.3%) of the 81 patients treated with PRP significantly improved the symptoms and 65 (80.2%) completely healed. CONCLUSIONS: These therapies served as safe and effective adjuvant modalities for MRONJ treatment. The lack of randomized clinical trials evidences the need for more high-quality investigations on the subject.

Classical swine fever virus (C strain) distribution in organ samples of inoculated piglets.

Enzyme linked immunosorbent assays (ELISAs) and a nested polymerase chain reaction after reverse transcription (RT-PCR) were used for the detection of the Chinese strain (C strain) of classical swine fever virus (CSFV) in blood and tissue samples of experimentally inoculated piglets. One group of 10 piglets was inoculated with C strain material from rabbits and a second one with material from infected minipig kidney (MPK) cell culture. Tested blood samples were taken on the day of inoculation as well as on days 2, 4, 6, 8, 10, 13 and 16. Samples of spleen, tonsil and brain tissue were collected from piglets on days 6, 8, 10, 13 and 16 and tested for glycoprotein E(RNS) and protein NS2-3 using commercially available ELISA kits. E(RNS) and NS2-3 were detected earlier in blood samples of piglets inoculated with the C strain propagated in a cell culture. Regardless of propagation the presence of the viral E(RNS) and NS2-3 was detected in spleen and tonsil samples simultaneously. The C strain propagated in a cell culture was found in only one brain sample, whereas, the virus propagated in rabbits was detected in 70% of the brain samples. For the detection of the CSFV RNA in blood samples, a part within the 5' non-coding region was amplified. The differences in the results gained by antigen detection in blood samples decreased when nested RT-PCR was used.

[Norwegian scabies in a pediatric patient with Down syndrome, a case report]. / Sarna noruega en un paciente pediátrico con síndrome de Down: A propósito de un caso.

Norwegian (crusted) scabies is a rare and extreme manifestation of scabies that can be observed mainly among immunosuppressed patients. Due to the high number of scabies mites present in each lesion, crusted scabies symptoms are much more intense than in usual scabies and it is thus highly contagious. A case study of a child with Down syndrome and Norwegian scabies who shows a good response to a treatment combining keratolytics, emollients, ivermectin and topical scabicides is described.

Pneumothorax post brachial plexus block guided by ultrasound: a case report.

BACKGROUND AND OBJECTIVES: Brachial plexus block is used for upper limbs anesthesia. The use of ultrasound-guided (USG) technique for blockade has become popular in recent years, facilitating its execution by providing real-time images of the plexus and surrounding structures while minimizing complications. The purpose of this report is to describe a case of pneumothorax following ultrasound-guided interscalene block. CASE REPORT: Male patient, 49 years old, weight 62kg and height 1.72m, slender, smoker, asymptomatic, ASA II E. The patient underwent surgical repair of right ulna open fracture through USG-guided interscalene brachial plexus block with axillary supplementation. After sedation and antisepsis, the linear probe of the USG apparatus was placed perpendicular to the interscalene groove (12 Hz), and stimucath A50 introduced in plane. After visualization of nerve trunks, 20mL of ropivacaine 0.5% was administered with axillary block supplementation (same volume and concentration of anesthetic). At the end of surgery, the patient complained of respiratory-dependent chest pain associated with dyspnea and decreased pulse oximetry (91% in room air), but hemodynamic stable (BP=130/70 and HR=84 bpm). Although pulmonary auscultation was normal, chest X-ray showed the presence of right pneumothorax. Water seal chest drainage was performed, after which the patient reported improvement of symptoms and was discharged from hospital in good general condition after 8 days. CONCLUSION: Despite the dynamic visualization of cervical structures with USG, interscalene block may result in pneumothorax. An unusual higher pleural dome due to the hyperinflated lung (smoking) probably facilitated the accidental pleural puncture.

Sarna noruega en un paciente pediátrico con síndrome de Down: A propósito de un caso / Norwegian scabies in a pediatric patient with Down syndrome, a case report

La sarna noruega es una variedad muy infrecuente¹ de la escabiosis que afecta principalmente a pacientes inmunodeprimidos. Debido a la gran cantidad de parásitos presentes en las lesiones, las manifestaciones clínicas son mucho más intensas que en las formas habituales de sarna y es altamente contagiosa. Se describe el caso de un niño con síndrome de Down con este tipo de parasitosis, que presentó una respuesta muy satisfactoria al tratamiento combinado con queratolíticos, emolientes, ivermectina y acaricidas tópicos.

Norwegian (crusted) scabies is a rare and extreme manifestation of scabies that can be observed mainly among immunosuppressed patients. Due to the high number of scabies mites present in each lesion, crusted scabies symptoms are much more intense than in usual scabies and it is thus highly contagious. A case study of a child with Down syndrome and Norwegian scabies who shows a good response to a treatment combining keratolytics, emollients, ivermectin and topical scabicides is described.

Pneumotórax pós-bloqueio de plexo braquial guiado por ultrassonografia: relato de caso / Pneumothorax post brachial plexus block guided by ultrasound: a case report / Neumotórax pos bloqueo del plexo braquial guiado por ultrasonido: relato de caso

JUSTIFICATIVA E OBJETIVOS: O bloqueio do plexo braquial é usado para anestesia nos membros superiores. O uso da ultrassonografia (USG) como técnica de bloqueio vem se popularizando nos últimos anos, facilitando a realização do bloqueio por fornecer imagens em tempo real do plexo e das estruturas circunjacentes, além de minimizar as complicações. O objetivo deste relato foi descrever um caso de pneumotórax após bloqueio interescalênico guiado por ultrassonografia. RELATO DE CASO: Paciente masculino, 49 anos, 62 kg e 1,72 m, longilíneo, tabagista, assintomático, ASA II E. Submetido a tratamento cirúrgico de fratura exposta de ulna direita com bloqueio de plexo braquial via interescalênica guiada por USG com complementação por via axilar. Após sedação e antissepsia, foi colocado o probe linear do aparelho de USG perpendicular à fenda interescalênica (12 Hz) e introduzido stimucath A50, in plane. Após visualização dos troncos nervosos, foi feita injeção de 20 mL de Ropivacaína 0,5% com complementação do bloqueio via axilar (mesmo volume e concentração de anestésico). Ao término da cirurgia, o paciente queixou-se de dor torácica ventilatório-dependente associada à dispneia e queda da oximetria de pulso (91% em ar ambiente), mantendo-se, entretanto, estável hemodinamicamente (PA = 130/70 e FC = 84 bpm). Apesar de ausculta pulmonar normal, o RX de tórax solicitado evidenciou presença de pneumotórax à direita. Feita drenagem torácica fechada em selo d'água, após a qual o paciente referiu melhoria dos sintomas. Alta em bom estado geral após oito dias. CONCLUSÃO: Apesar da visualização dinâmica das estruturas cervicais com o aparelho de USG, o bloqueio interescalênico pode resultar em pneumotórax. A cúpula pleural mais elevada do que o habitual, devido a um pulmão hiperinsuflado (tabagismo), provavelmente facilitou a punção pleural inadvertida.

BACKGROUND AND OBJECTIVES: Brachial plexus block is used for upper limbs anesthesia. The use of ultrasound-guided (USG) technique for blockade has become popular in recent years, facilitating its execution by providing real-time images of the plexus and surrounding structures while minimizing complications. The purpose of this report is to describe a case of pneumothorax following ultrasound-guided interscalene block. < CASE REPORT: Male patient, 49 years old, weight 62 kg and height 1.72 m, slender, smoker, asymptomatic, ASA II E. The patient underwent surgical repair of right ulna open fracture through USG-guided interscalene brachial plexus block with axillary supplementation. After sedation and antisepsis, the linear probe of the USG apparatus was placed perpendicular to the interscalene groove (12 Hz), and stimucath A50 introduced in plane. After visualization of nerve trunks, 20 mL of ropivacaine 0.5% was administered with axillary block suplementation (same volume and concentration of anesthetic). At the end of surgery, the patient complained of respiratory-dependent chest pain associated with dyspnea and decreased pulse oximetry (91% in room air), but hemodynamic stable (BP = 130/70 and HR = 84 bpm). Although pulmonary auscultation was normal, chest X-ray showed the presence of right pneumothorax. Water seal chest drainage was performed, after which the patient reported improvement of symptoms and was discharged from hospital in good general condition after 8 days. CONCLUSION: Despite the dynamic visualization of cervical structures with USG, interscalene block may result in pneumothorax. An unusual higher pleural dome due to the hyperinflated lung (smoking) probably facilitated the accidental pleural puncture.

JUSTIFICATIVA Y OBJETIVOS: El bloqueo del plexo braquial se usa para la anestesia en los miembros superiores. El uso del ultrasonido (US) como técnica de bloqueo se ha venido popularizando en los últimos años, facilitando la realización del bloqueo por suministrar imágenes en tiempo real del plexo y de las estructuras circunyacentes, además de minimizar las complicaciones. El objetivo de este relato, fue describir un caso de neumotórax posteriormente al bloqueo interescalénico guiado por ultrasonido. RELATO DE CASO: Paciente masculino, de 49 años, 62 kg y 1,72 m, delgado, fumador, asintomático, ASA II E. Sometido a tratamiento quirúrgico de fractura expuesta del cúbito derecho con bloqueo de plexo braquial vía interescalénica guiada por US con complementación por vía axilar. Después de la sedación y de la antisepsia, fue colocada la sonda linear del aparato de US perpendicular a la hendidura interescalénica (12 Hz) e introducido el stimucath A50, in plane. Después de la visualización de los troncos nerviosos, se inyectaron 20 mL de Ropivacaína al 0,5% con complementación del bloqueo vía axilar (el mismo volumen y concentración del anestésico). Al finalizar la cirugía, el paciente se quejó de dolor torácico ventilatoriodependiente asociado con la disnea y con la caída de la oximetría de pulso (91% en aire ambiente), manteniéndose sin embargo estable hemodinámicamente (PA = 130/70 y FC = 84 lpm). A pesar de la auscultación pulmonar ser normal, el RX de tórax solicitado arrojó la presencia de neumotórax a la derecha. Se hizo el drenaje torácico cerrado en sello de agua, después del cual el paciente dijo sentir una mejoría de los síntomas. Se le dio el alta en buen estado general en ocho días. CONCLUSIONES: A pesar de la visualización dinámica de las estructuras cervicales con el aparato de US, el bloqueo interescalénico puede dar como resultado un neumotórax. La cúpula pleural más elevada que lo habitual, debido a un pulmón hiperinsuflado (tabaquismo), tal vez haya facilitado la punción pleural inadvertida.