Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing

Biallelic pathogenic variants in the gene PYROXD1 have recently been described to cause early-onset autosomal recessive myopathy. Myopathy associated with PYROXD1 pathogenic variants is rare and reported in only 17 individuals. Known pathogenic variants in PYROXD1 include missense, insertion and essential splice-site variants. Here we describe a consanguineous family of individuals affected with late-onset myopathy and homozygous PYROXD1 missense variants (NM_024854.5:c.464A>G [p.Asn155Ser]) expanding our understanding of the possible disease phenotypes of PYROXD1-associated myopathy.     

Human dental pulp stem cells derived from different cryopreservation methods of human dental pulp tissues of diseased teeth

J Oral Pathol Med (2011) 40 : 793–800 Background: Successful isolation of human dental pulp stem cells (hDPSCs) has been documented at least 120 h after tooth extraction. Viable hDPSCs have been isolated chiefly from cryopreserved healthy molar teeth and their undigested dental pulp tissue. Isolation of hDPSCs from diseased but vital teeth after cryopreservation has not been reported. This study aimed to isolate hDPSCs from cryopreserved diseased but vital teeth of various tooth types. Materials: Fifty tooth samples were divided into group A (n = 20) – freshly derived dental pulp tissues, group B (n = 20) – liquid nitrogen (liq N₂)‐stored dental pulp tissues and group C (n = 10) – liq N₂‐stored intact teeth. Methods and results: The success rate for hDPSCs isolation was 100% for groups A and B and only 20% for group C. hDPSCs from all groups demonstrated self‐renewal properties and similar multipotent potential characteristics of adipogenic, chondrogenic and osteogenic differentiation. In addition, hDPSCs showed high expression of bone‐marrow mesenchymal stem‐cell markers (CD29, CD90 and CD105) and very low expression of specific hematopoietic cells markers (CD14, CD34 and CD45). Conclusion: Our results indicate that hDPSCs isolated from diseased but vital teeth of various tooth types can be stored in liq N₂ for future usage.     

Prospective Evaluation of Laparoscopy-assisted Colectomy versusLaparotomy with Resection for Management of Complex Polyps of theSigmoid Colon

Laparoscopy-assisted colectomy istechnically feasible, but objective evidence of its benefits remainsscarce. This study was done to evaluate the outcomes and operativestress of laparoscopy-assisted colectomy versus the traditional openmethod in the management of sigmoid complex polyps that cannot besafely or adequately removed by colonofibroscopy. Between January 1997and December 1999, a total of 42 patients were equally randomizedto the laparoscopy group and the laparotomy group by the blockedrandomization method. Three patients randomized to the laparoscopygroup did not complete the trial; therefore 18 patients treated bylaparoscopy-assisted sigmoidectomy and the other 21 treated by the openmethod were prospectively evaluated. These two groups of patients werewell matched in age, gender, symptoms, tumor location, localizationmethod, tumor size, morphology, histopathology, and the accuracy of theclinical diagnosis. Two standardized surgical strategies, thelateral-to-medial and medial-to-lateral dissection sequences, wereperformed in 14 and 4 patients of the laparoscopy group, respectively,according to whether their tumors were located above or below 20 cmabove the anal verge. After evaluating the surgical outcomes, we foundthat the laparoscopy group was significantly better than the laparotomygroup in regard to parameters that included severity of postoperativepain, wound size, postoperative complication rate, and the duration ofpostoperative ileus, hospitalization, and disability. There was nosignificant difference in the operating times for these two groups.However, the costs of the laparoscopy group were significantly higher.To evaluate the surgical stress, we measured the serum C-reactiveprotein (CRP) level, erythrocyte sedimentation rate (ESR), totallymphocyte count, and CD4+/CD8+ ratio 24 hoursbefore and after surgery. We found that the postoperative serum CRPlevel and the ESR were significantly less elevated and the totallymphocyte counts and CD4+/CD8+ ratio weresignificantly less depressed in the laparoscopy group than in thelaparotomy group. We thus concluded that laparoscopy-assistedsigmoidectomy can be safely performed with shorter convalescence andless operative stress but at a higher cost. We strongly recommended theuse of this technique in the management of sigmoid complex polyps ifthe patient's economic status permits.     

Urinary 1-hydroxypyrene as a biomarker of internal dose of polycyclic aromatic hydrocarbons in carbon black workers

In this study, a total of 30 workers were selected, including eight wet pelletizing workers and 22 packaging workers. For all selected workers, urine samples were collected on the first day pre-shift, first day post-shift and fifth day post-shift, and their urinary 1-hydroxylpyrene levels (1-OHP) were determined (denoted as BM1pre, BM1post and BM5post, respectively). Personal respiratory exposures, including both inhalable particle-bound PAHs (Cinh) and gaseous PAHs (Cgas), together with dermal exposure to particle-bound PAHs (Cskin) were measured. Personal background information, including age, sex and smoking habit, was carefully registered. Pyrene exposure was statistically significantly correlated with exposure to PAHs and carcinogenic PAHs. Multiple linear regression analysis results showed that the BM1post values could not be explained by workers' exposures. For BM5post in packaging workers, both the regression model (R2 = 0.73) and the regression coefficients for Cgas, Cinh and Cskin were statistically significant (P < 0.05). For pelletizing workers, the R2 value was higher but was not statistically significant because of the smaller number of workers. The resultant regression coefficients for 'sex', 'smoking habit' and 'age' were statistically insignificant (P > 0.05), which could be because these variables made relatively small contributions to BM5post. In conclusion, this study suggests BM5post could be a suitable indicator for PAH exposures of carbon black workers, on the condition that both respiratory (including gaseous PAHs and particle-bound PAHs) and dermal exposures have been assessed.     

Pathological features of betel quid-related oral epithelial lesions in taiwan with special emphasis on the tumor progression and human papillomavirus association

Betel quid (BQ) chewing has been a well-documented cause of oral epithelial lesions (OEL). Evolution from early hyperplastic lesions to the late or carcinomatous stage has been recognized. The pathobiological and molecular mechanism, however, remains to be elucidated. In this study, a total of 232 samples obtained from 153 cases of BQ-related OEL were retrospectively evaluated for the expression of p53 and bcl-2 in comparison with 26 cases of BQ-unrelated lesions (n = 29). The possible role of human papillomavirus (HPV) was also investigated. These BQ-related OELs included verrucous hyperplasia (VIH, n = 57, 24.6%), epithelial dysplasia (n = 23, 9.9%), verrucous carcinoma (VC, n = 5, 2.1%) and squamous cell carcinoma (SCC, n = 106, 45.7%). Fifty-four cases (35.3%) had multiple lesions. In comparison with the BQ-unrelated OELs, the characteristics of BQ-related OELs were a younger age, male predilection and multicentricity. In contrast to the tongue in BQ-unrelated OELs, the most common site for all types of BQ-related lesions was the buccal mucosa. Immunohistochemical studies of BQ-related lesions showed p53 staining in 30% of dysplasia and 38% of SCC, but a consistent absence in VH and VC. The cases with p53-positive SCC had a higher recurrence rate than p53-negative ones. Bcl-2 expression was negligible for all types of lesions. HPV-6/11 was detectable in 10% of dysplasia and 13% of SCC, but in neither VH nor VC. HPV-16/18, however, was consistently negative for all types of lesions. Our data suggest that p53, but not bcl-2, may play a role in tumor progression of BQ-related OELs, and that VH and VC are distinct and closely related histological lesions. The consistent absence of the malignant-type HPV in all BQ-related lesions suggests that HPV plays an insignificant role in the tumorigenesis of BQ-related oral cancers, although a cooperative role may exist between the benign-type HPV and BQ chewing.     

Asperger's syndrome and aberrant neurofunctional organization--a case report

Asperger's Syndrome(AS) is a severe developmental disorder characterized primarily by marked and sustained difficulties in social interaction and unusual patterns of circumscribed interests and behavioral peculiarities. AS differs from autism primarily in that there is no general delay or retardation in language. A 3. 5 year-old boy with AS was referred for psychological assessment and treatment. When the boy was 23 months old, he was assessed with Bayley Scales of Infant Development (2nd ed.). Both MDI and PDI were within normal limits. After the referral, this boy was assessed with WPPSI-R and then prescribed 5 weekly intervention sessions consisting of communication skills training. At a one week's follow-up the boy was reassessed with Leiter-R. The results of WPPSI-R and Leiter-R showed the boy was in the normal intelligence range. From the second session to the fifth session, the boy's mother recorded 526 of his utterances. According to the analysis of these speech data, the language development for this boy was at Stage V, which indicated that his language development was in the superior range for his age. After 5 intervention sessions, the improvements in the child's communication skills were such that no further sessions were warranted. This boy might represent a case of aberrant neurofunctional organization. He has defects in perceptual organization but has good pattern recognition, which is based on features. It is theorized that his excellent verbal ability competed with the perceptual organization, so that he compensated for perceptual organization with verbal ability. An intervention designed to inhibit verbal compensation and facilitate configural processing is recommended.     

Efferent connections from the external cuneate nucleus to the medulla oblongata in the gerbil

The present study revealed the efferent projections from the external cuneate nucleus (ECN) to various medullary nuclei in the gerbl as demonstrated in fresh living brainstem slices by using in vitro anterogradely tracing with the dextran-tetramethyl-rhodamine-biotin. The tracer-labelled ECN axon terminals were observed (1) in most of the vital autonomic-related nuclei: the nucleus solitary tractus, nucleus ambiguus, rostroventrolateral reticular nucleus and C₂ adrenergic area, (2) in the reticular formation: the medullary, parvocellular, intermediate, gigantocellular, dorsal paragigantocellular and lateral paragigantocellular reticular nuclei and medullary linear nucleus, and (3) in sensory nuclei: the cuneate nucleus, spinal trigeminal nuclei caudalis and interpolaris, paratrigeminal nucleus, medial and spinal vestibular nuclei, inferior olive and prepositus hypoglossal nucleus. These new findings are discussed in relation to possible roles of the ECN in cardiovascular, respiratory and sensorimotor controls.     

Fatal toxic shock syndrome associated with Clostridium sordellii after medical abortion

Endometritis and toxic shock syndrome associated with Clostridium sordellii have previously been reported after childbirth and, in one case, after medical abortion. We describe four deaths due to endometritis and toxic shock syndrome associated with C. sordellii that occurred within one week after medically induced abortions. Clinical findings included tachycardia, hypotension, edema, hemoconcentration, profound leukocytosis, and absence of fever. These cases indicate the need for physician awareness of this syndrome and for further study of its association with medical abortion.