TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations

The tubulinopathies refer to a wide range of brain malformations caused by mutations in one of the seven genes encoding different tubulin's isotypes. The β‐tubulin isotype III (TUBB3) gene has a primary function in nervous system development and axon generation and maintenance, due to its neuron‐specific expression pattern. A recurrent heterozygous mutation, c.1228G > A; p.E410K, in TUBB3 gene is responsible of a rare disorder clinically characterized by congenital fibrosis of the extraocular muscle type 3 (CFEOM3), intellectual disability and a wide range of neurological and endocrine abnormalities. Other mutations have been described spanning the entire gene and genotype–phenotype correlations have been proposed. We report on a 3‐year‐old boy in whom clinical exome sequencing allowed to identify a de novo TUBB3 E410K mutation as the molecular cause underlying a complex phenotype characterized by a severe bilateral palpebral ptosis refractory to eye surgery, psychomotor delay, absent speech, hypogonadism, celiac disease, and cyclic vomiting. Brain MRI revealed thinning of the corpus callosum with no evidence of malformation cortical dysplasia. We reviewed available records of patients with TUBB3 E410K mutation and compared their phenotype with the clinical outcome of patients with other mutations in TUBB3 gene. The present study confirms that TUBB3 E410K results in a clinically recognizable phenotype, unassociated to the distinct cortical dysplasia caused by other mutations in the same gene. Early molecular characterization of TUBB3 E410K syndrome is critical for targeted genetic counseling and prompt prospective care in term of neurological, ophthalmological, endocrine, and gastrointestinal follow‐up.     

Comparison between VII-to-VII and XII-to-VII coaptation techniques for early facial nerve reanimation after surgical intra-cranial injuries: a systematic review and pooled analysis of the functional outcomes

Neurosurgical Review - The surgical injury of the intracranial portion of the facial nerve (FN) is a severe complication of many skull base procedures, and it represents a relevant issue in terms...     

Effects of Osseodensification on Immediate Implant Placement: Retrospective Analysis of 211 Implants

Osseodensification is a new method of bone instrumentation for dental implant placement that preserves bulk bone and increases primary implant stability, and may accelerate the implant rehabilitation treatment period and provide higher success and survival rates than conventional methods. The aim of this retrospective study was to evaluate and discuss results obtained on immediate implant placement with immediate and delayed loading protocols under Osseodensification bone instrumentation. This study included private practice patients that required dental implant rehabilitation, between February 2017 and October 2019. All implants were placed under Osseodensification and had to be in function for at least 12 months to be included on the study. A total of 211 implants were included in the study, with a 98.1% total survival rate (97.9% in the maxilla and 98.5% in the mandible). For immediate implants with immediate load, 99.2% survival rate was achieved, and 100% survival rate for immediate implant placement without immediate load cases. A total of four implants were lost during this period, and all of them were lost within two months after placement. Within the limitations of this study, it can be concluded that Osseodensification bone instrumentation provided similar or better results on survival rates than conventional bone instrumentation.     

Beiträge zur Wirkung einiger proteolytischer Fermente auf die bösartigen Tumoren der Ratten

Zusammenfassung Nachdem die Wichtigkeit dargelegt ist, welche dem Studium der Enzyme in der Biologie der Krebszelle im Lichte der neuesten Untersuchungen zukommt, von denen die wichtigsten Ergebnisse angeführt werden, sind die experimentell beim Rattensarkom mit aus der Milz und den Nebennieren verschiedener Tiere gewonnenen Enzymen erhaltenen Befunde besprochen.Es handelt sich um proteolytische, nach den Methoden vonWillstätter undHedins gewonnenen Enzyme. Der Verfasser hat in den verschiedenen Untersuchungsgruppen nicht gleichsinnige Ergebnisse erhalten und schreibt diese Ungleichsinnigkeit der enzymatischen Wirkungen einerseits Unsicherheiten der Präparation, anderseits ihrer großen Labilität zu.Jedenfalls hat er eine undiskutierbare Wachstumshemmung und bisweilen auch einen Rückgang, sei es auch nur zeitweilig, der in die Phase der höchsten Entwicklung gelangten Tumoren bemerken können.Das würde das Bestehen von Beziehungen zwischen den Prozessen neoplastischer Nekrosen und den organischen proteolytischen Enzymen beweisen.     

A modified technique for repair of the anomalous origin of the right pulmonary artery from the ascending aorta.

We report a modified technique of right pulmonary artery implantation to the main pulmonary artery with interposition of a tube created from the great arterial wall for an anomalous origin of the right pulmonary artery from the right lateral aspect of the ascending aorta. This technique offers extra autologous tissue length and reduced tension at the anastomotic site. It also offers the possibility to place the anomalous right pulmonary artery anterior to the ascending aorta, avoiding the aortic compression. This technique was employed successfully in a 15-week-old female.