Biomedical subjects

David A Staffenberg

Publications and source records attributed to David A Staffenberg.

5 recordsLinked to original sources

PubMed2025

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.

PURPOSE: XPO1 functions in key cellular processes, including nucleo-cytoplasmic export and mitosis. The gene is deleted in a subset of patients with the 2p15p16.1 microdeletion syndrome; however, no monogenic XPO1-related disorder has been described to date. METHODS: We collected clinical data of individuals with de novo XPO1 variants through online matchmaking. We used Drosophila to study XPO1 function in development and habituation learning. RESULTS: A total of 22 individuals met the criteria to be included in the main study cohort. Of these, half have putative loss-of-function variants, and half have coding variants (10 missense and 1 in-frame deletion variant). We found an overlapping phenotype, consistent with a monogenic neurodevelopmental disorder. We demonstrate XPO1 functions in development by ubiquitous and neuron-specific knockdown in Drosophila. GABAergic neuron specific knockdown flies demonstrated impaired habituation. CONCLUSION: Our results establish XPO1 as a novel dominant monogenic neurodevelopmental disorder gene and demonstrate a central role for XPO1 in development.

Exportin 1 Protein↗

PubMed2005

Separation of craniopagus conjoined twins: an evolution in thought.

Advances in medicine have enabled more craniopagus twins to survive separation, but the ultimate goal, to have both twins emerge from their separation with full neurologic function and a chance at leading independent and productive lives, remains elusive. The authors were contacted to evaluate craniopagus conjoined male infant twins for separation. Once it was determined that the brains were separate, they reviewed the literature and elected to design an open-ended multistaged separation. Four major stages over 9 and a half months led to the successful separation and preservation of neurologic function. To the authors' knowledge, this is the first such outcome in such a case. This article reviews the pertinent literature and discusses the authors' rationale and methodology.

Head↗

PubMed2004

Craniopagus twins: clinical and surgical management.

CASE REPORT: We present the case of 2-year-old craniopagus twins who are in the process of undergoing a staged separation of their craniums. In addition, they will undergo a full calvarial vault remodeling to reconstruct the lacking skull and scalp tissue in each child. We elected to do a staged separation rather than a single marathon operation for various reasons, which we will detail in this report. DISCUSSION: The philosophy and surgical management of each step will be discussed along with the pros and cons behind the reasoning that was used. At the time of this report the children have undergone three of what are projected to be four stages of separation. Each of the stages has had unique characteristics and surgical judgments involved, and those will be reviewed. CONCLUSION: Successful separation of viable conjoined twins has been historically a great rarity. Successful separation of twins where both have come out of surgery without any neurological deficit remains a rare occurrence and in our mind the ultimate goal.

Brain↗

PubMed2003

Microtia repair.

Construction of the congenitally absent ear is a particular challenge. It represents the true essence of plastic surgery in that it not only requires sound surgical principles but artistic skill. Although a solid familiarity with the stages is important, the surgeon's own experience will direct gradual modification.

Cartilage↗

PubMed2002

Diprosopus: a unique case and review of the literature.

BACKGROUND: We present a case of partial facial duplication in a male infant. METHODS: The clinical, radiological, and laboratory findings for this patient are described, followed by a review of the literature. RESULTS: Craniofacial duplication is a rare form of conjoined twinning and presents in a wide spectrum, from dicephalus to diprosopus to partial facial duplication. Many of these cases can be diagnosed prenatally. Prenatal assessment of our patient revealed only agenesis of the corpus callosum. CONCLUSIONS: The pathogenesis is believed to involve duplication of the notochord. Where there are more severe associated anomalies, the prognosis is poor. Partial facial duplication, as in our case, is associated with fewer anomalies, and the prognosis is better. Symmetry and an excess of tissue, rather than deficiency, favor a positive result.

Cervical Vertebrae↗