Temperature variations within and between incubators-a prospective, observational study.

PURPOSE: To determine if there is a temperature variation within and between incubators. METHODS: This prospective, experimental trial with external controls was performed at an Assisted Reproductive Technology laboratory in a tertiary-care, university hospital. Temperature values were taken at various locations within and between incubators. RESULTS: Even though they were both set to 37.0 °C, the same make and model incubators had significantly different internal temperatures. Temperatures differed significantly among top, middle and bottom shelves and between fronts and backs of shelves. CONCLUSION(S): We found temperatures differed within and between our front-loading incubators. Thus, laboratory personnel should evaluate their incubators for temperature variations within and between incubators and, if temperatures differ significantly, develop a plan to deal with discrepancies.

The heat is on: room temperature affects laboratory equipment--an observational study.

OBJECTIVE: To evaluate the effect of ambient room temperature on equipment typically used in in vitro fertilization (IVF). DESIGN: We set the control temperature of the room to 20 °C (+/-0.3) and used CIMScan probes to record temperatures of the following equipment: six microscope heating stages, four incubators, five slide warmers and three heating blocks. We then increased the room temperature to 26 °C (+/-0.3) or decreased it to 17 °C (+/-0.3) and monitored the same equipment again. We wanted to determine what role, if any, changing room temperature has on equipment temperature fluctuation. RESULTS: There was a direct relationship between room temperature and equipment temperature stability. When room temperature increased or decreased, equipment temperature reacted in a corresponding manner. Statistical differences between equipment were found when the room temperature changed. What is also noteworthy is that temperature of equipment responded within 5 min to a change in room temperature. CONCLUSIONS: Clearly, it is necessary to be aware of the affect of room temperature on equipment when performing assisted reproductive procedures. Room and equipment temperatures should be monitored faithfully and adjusted as frequently as needed, so that consistent culture conditions can be maintained. If more stringent temperature control can be achieved, human assisted reproduction success rates may improve.

Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism.

X-Linked intellectual disability accounts for a significant fraction of males with cognitive impairment. Many of these males present with a non-syndromic phenotype and presently mutations in 17 X-linked genes are associated with these patients. Mutations in IL1RAPL1 have been found in multiple families with non-syndromic X-linked intellectual disability. All of the published mutations predict loss of function of the protein. We have identified an additional two families with deletions of a portion of the gene that give rise to cognitive impairment, as well as some behavioral problems and mild dysmorphism. Our clinical findings better delineate the phenotypic spectrum associated with IL1RAPL1 mutations.

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation.

In a systematic sequencing screen of the coding exons of the X chromosome in 250 families with X-linked mental retardation (XLMR), we identified two nonsense mutations and one consensus splice-site mutation in the AP1S2 gene on Xp22 in three families. Affected individuals in these families showed mild-to-profound mental retardation. Other features included hypotonia early in life and delay in walking. AP1S2 encodes an adaptin protein that constitutes part of the adaptor protein complex found at the cytoplasmic face of coated vesicles located at the Golgi complex. The complex mediates the recruitment of clathrin to the vesicle membrane. Aberrant endocytic processing through disruption of adaptor protein complexes is likely to result from the AP1S2 mutations identified in the three XLMR-affected families, and such defects may plausibly cause abnormal synaptic development and function. AP1S2 is the first reported XLMR gene that encodes a protein directly involved in the assembly of endocytic vesicles.