Possible determination of the vector and reservoir of leishmaniasis in the Dominican Republic.

Two species of sand flies were collected by various methods from sites in the Dominican Republic. Lutzomyia cayennensis hispaniolae was the more common of the two. It was found in wooded habitats from sea level to an elevation of 442 m. This species was observed feeding on lizards (Anolis sp.) in the wild. In the laboratory, it fed only on lizards and only under lighted conditions. The other species, Lu. christophei was only found in the vicinity of seven leishmaniasis case sites. It readily fed on or probed rodents and humans. Although no naturally infected sand flies were collected, in the laboratory Lu. christophei was readily capable of transmitting the Dominican Leishmania parasite to uninfected BALB/c mice. We collected 167 specimens of three species of rodents and three Herpestes auropunctatus (mongoose) from the vicinity of two case sites. All four species are non-endemics introduced in post-Columbian times. Although we were unable to isolate parasites from any of these specimens, four of 44 Rattus rattus from one case site were seropositive for antibodies against Leishmania by indirect fluorescent antibody testing. This represents the first report of transmission of the Dominican Leishmania parasite by a sympatric species of sand fly and suggests that commensal rodents may play a role in the epidemiologic cycle.     

Ovarian microcystic stromal tumor: A novel extracolonic tumor in familial adenomatous polyposis

Ovarian microcystic stromal tumor (MCST) is a very rare neoplasm; hence, its nomenclature was recently designated as “Distinctive morphologic and immunohistochemical features” in 2009. Its exact origin, etiological genetic alterations, and background are not yet clearly known. Familial adenomatous polyposis (FAP) is an autosomal dominant disease that leads to development of colorectal polyps via germ‐line mutations of the APC gene on chromosome 5q21～22. In this study, we report a 40‐year‐old female patient who had ovarian MCST and FAP. On sequencing the APC gene in ovarian MSCT, we detected a novel somatic mutation of the APC gene in exon 11, with a heterozygous deletion at nucleotide position c.1540delG (p.Ala514 Profs*9). Mutations of β‐catenin (CTNNB1) and FOXL2 were not detected. Although one case demonstrating involvement of Wnt/β‐catenin in ovarian MCST associated with FAP has been presented previously, no detailed information was provided. Thus, this is the ovarian MCST with a somatic mutation of APC in a patient with FAP. © 2015 Wiley Periodicals, Inc.     

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment,Spastic Paraparesis,Axonal Neuropathy,and Cerebellar Atrophy

KIF1A is a neuron‐specific motor protein that plays important roles in cargo transport along neurites. Recessive mutations in KIF1A were previously described in families with spastic paraparesis or sensory and autonomic neuropathy type‐2. Here, we report 11 heterozygous de novo missense mutations (p.S58L, p.T99M, p.G102D, p.V144F, p.R167C, p.A202P, p.S215R, p.R216P, p.L249Q, p.E253K, and p.R316W) in KIF1A in 14 individuals, including two monozygotic twins. Two mutations (p.T99M and p.E253K) were recurrent, each being found in unrelated cases. All these de novo mutations are located in the motor domain (MD) of KIF1A. Structural modeling revealed that they alter conserved residues that are critical for the structure and function of the MD. Transfection studies suggested that at least five of these mutations affect the transport of the MD along axons. Individuals with de novo mutations in KIF1A display a phenotype characterized by cognitive impairment and variable presence of cerebellar atrophy, spastic paraparesis, optic nerve atrophy, peripheral neuropathy, and epilepsy. Our findings thus indicate that de novo missense mutations in the MD of KIF1A cause a phenotype that overlaps with, while being more severe, than that associated with recessive mutations in the same gene.     

Clear cell carcinoid of the appendix: Report of two cases with literature review

The clear cell/lipid‐rich change has been described in neuroendocine tumors in several organs, but rarely observed in the appendix. In this study, we describe the morphologic, immunohistochemical features of incidentally discovered appendiceal carcinoids entirely represented by clear cells in a 22‐year‐old man and a 52‐year‐old woman. Ultrastructual examination demonstrated abundant lipid droplets and dense core granules. The mechanism leading to lipid accumulation in the cytoplasm has not been discovered, but degenerative processes following recurrent inflammatory change might be considered. This uncommon variant of appendiceal classic carcinoid tumors may bear a superficial resemblance to goblet carcinoid and/or appendiceal metastases from clear cell carcinoma. Awareness of clear cell carcinoid of the appendix will prevent incorrect diagnosis and unnecessary aggressive management.     

Using a social robot to teach gestural recognition and production in children with autism spectrum disorders

While it has been argued that children with autism spectrum disorders are responsive to robot-like toys, very little research has examined the impact of robot-based intervention on gesture use. These children have delayed gestural development. We used a social robot in two phases to teach them to recognize and produce eight pantomime gestures that expressed feelings and needs. Compared to the children in the wait-list control group (N?=?6), those in the intervention group (N?=?7) were more likely to recognize gestures and to gesture accurately in trained and untrained scenarios. They also generalized the acquired recognition (but not production) skills to human-to-human interaction. The benefits and limitations of robot-based intervention for gestural learning were highlighted.

• Implications for Rehabilitation

• Compared to typically-developing children, children with autism spectrum disorders have delayed development of gesture comprehension and production.

• Robot-based intervention program was developed to teach children with autism spectrum disorders recognition (Phase I) and production (Phase II) of eight pantomime gestures that expressed feelings and needs.

• Children in the intervention group (but not in the wait-list control group) were able to recognize more gestures in both trained and untrained scenarios and generalize the acquired gestural recognition skills to human-to-human interaction.

• Similar findings were reported for gestural production except that there was no strong evidence showing children in the intervention group could produce gestures accurately in human-to-human interaction.

     

Examining practical nursing experiences to discover ways in which to retain and invigorate the remaining functions of the elderly with a demented and complex disability in nursing homes

Aim

The bedridden elderly with moderate‐to‐severe dementia account for a large proportion of the residents in nursing homes and form a specialized group requiring customized care in order to encourage their remaining functions, which determine the quality of their residual life. The purpose of this study was to search for ways to invigorate and foster the remaining functions of this complex‐disability group, based on practical nursing strategies in nursing homes.

Methods

The qualitative thematic analysis was done by conducting in‐depth interviews with 29 nurses working at 11 different nursing homes in South Korea.

Results

This study proposed four main themes and 19 sub themes as keys for providing specialized nursing care to the elderly with physical and cognitive disabilities. The main themes encourage the residents' remaining functions: (i) accurate identification of an elderly resident's physical, cognitive, and behavioral baseline is necessary in order to determine their functional levels; (ii) nurses provide meticulous management to support the remaining functions in order to prevent further deterioration; (iii) optimized know‐how, based on accumulated experience and knowledge, is reflected in nursing strategies that maximize the effects of nursing interventions; and (iv) steady compliance with nursing guidelines and standards in nursing homes creates the best therapeutic environment and brings unexpected positive changes in the elderly's status.

Conclusion

A practical nursing strategy to target the group with a demented and complex disability in nursing homes was developed through thematic analysis of the empirical knowledge of nurses. The findings provide new insights for developing specialized nursing interventions and practical nursing models in long‐term care facilities.