Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy

Rett syndrome is a severe neurodevelopmental disorder that arises from mutations in the X-linked MECP2 gene. It is almost exclusively seen in girls due to the predominant occurrence of the mutations on the paternal X-chromosome, and also the early postnatal lethal effect of the disease causing mutations in hemizygous boys. We identified a boy with features of classic Rett syndrome who is mosaic for the truncating MECP2 mutation R270X. Chromosome analysis showed normal karyotype. These results indicate that a MECP2 mutation associated with Rett syndrome in females could lead to a similar phenotype in males as a result of somatic mosaicism.     

Infective agents in fixed human cadavers: a brief review and suggested guidelines

Cadavers remain a principal teaching tool for anatomists and medical educators teaching gross anatomy. Infectious pathogens in cadavers that present particular risks include Mycobacterium tuberculosis, hepatitis B and C, the AIDS virus HIV, and prions that cause transmissible spongiform encephalopathies such as Creutzfeldt-Jakob disease (CJD) and Gerstmann-Straussler-Scheinker syndrome (GSS). It is often claimed that fixatives are effective in inactivation of these agents. Unfortunately cadavers, even though they are fixed, may still pose infection hazards to those who handle them. Specific safety precautions are necessary to avoid accidental disease transmission from cadavers before and during dissection and to decontaminate the local environment afterward. In this brief review, we describe the infectious pathogens that can be detected in cadavers and suggest safety guidelines for the protection of all who handle cadavers against infectious hazards.     

Effects of L-carnitine on neutrophil functions in aged rats

Several age-related alterations occur at the cellular level in the immune system leading to a decrease in the immune response. The present study was designed to determine the effect of L-carnitine on impaired neutrophil functions of aged rats. For this reason, superoxide anion radical production, chemotaxis and phagocytic activity were studied in the neutrophils obtained from the peripheral blood of young and old rats. We orally gavaged L-carnitine (50 mg/kg b.w. per day) or control vehicle into young (2 months) and aged (24 months) rats for 30 consecutive days. The neutrophils of aged rats exhibited an increase in superoxide anion production and decline in phagocytosis and chemotaxis when compared with that in young rat neutrophils. Superoxide anion production in aged rats was significantly decreased by L-carnitine treatment which was accompanied with a significant enhancement of chemotactic and phagocytic activity being restored to control levels. These findings demonstrated that L-carnitine is capable of restoring the age-related changes of neutrophil functions.     

Coexistence of a pectoralis quartus muscle and an unusual axillary arch: case report and review

A pectoralis quartus muscle and an unusual axillary arch were found on the left side of a female cadaver. The axillary arch was a musculoaponeurotic complex continuous with the iliacal fibers of the latissimus dorsi. The muscular part, together with the tendon of pectoralis major, inserted into the lateral lip of the bicipital groove of the humerus, whereas the aponeurotic part was formed by a fibrous band that extended deep to the pectoralis major to insert into the coracoid process between the attachments of the coracobrachialis and pectoralis minor. The pectoralis quartus originated from the rectus sheath, and joined the inferior medial border of the fibrous band of the axillary arch, at the lateral edge of the pectoralis major. The axillary arch muscle crossed anteriorly the axillary vessels and the brachial plexus. The clinical importance of these muscles is reviewed.     

PD-1-Expressing SARS-CoV-2-Specific CD8+ T Cells Are Not Exhausted,but Functional in Patients with COVID-19

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Jitter analysis utilizing a high speed FM tape recorder

Jitter analysis in single fiber EMG (SFEMG) is usually done on-line during recording. However, this technique frequently prolongs the study and makes re-analysis impossible. We attempted to measure jitter with a high speed FM tape recorder and compare the results with the previously published values. SFEMG data, acquired with voluntary activation on extensor digitorum communis muscle of 25 healthy relatives of children with myasthenia gravis were retrospectively analyzed. Fiber density (FD) was estimated on-line. Five to 18 single fiber action potential (SFAP) pairs were studied in each subject. The wow of the tape recorder was 6 microseconds. Mean (SD) (upper 95th percentile) FD, individual jitter, highest jitter, mean jitter and interspike interval were 1.60 (0.18) (1.90), 25.30 (11.20) (57.00) microseconds, 31.24 (6.87) (47.00) microseconds, 25.08 (5.04) (43.00) microseconds, and 0.67 (0.11) (0.91) ms respectively. Mean jitter in the pooled SFAP pairs and mean MCD were found to be lower than the published values of the Ad Hoc Committee of the AAEM Special Interest Group on Single Fiber EMG. A high speed FM tape recorder can be reliably used for the off-line analysis of jitter.     

Pancreatobiliary adenosquamous carcinoma (report of two cases)

Adenosquamous carcinomas are rare malignant tumors of the pancreas and periampullary region. We present two cases of pancreatic and periampullary adenosquamous carcinoma with clinicopathologic, histo- and immunohistochemical findings. A 51-year-old and a 48-year-old man presented with right upper quadrant pain of three months duration and jaundice for two weeks. Both cases had an elevation of liver enzymes and CA 19-9. In the first case, computerized tomography showed a 3 cm-mass at the pancreatic head. In the second one, endoscopic retrograde choledocopancreatography (ERCP) revealed a mass at the ampulla Vateri localization. A pancreatoduodenectomy was performed for both cases. Gross pathologic examination displayed a solid, gray-white colored 4 cm-tumor at the pancreatic head and a solid, pink-white colored, 2 cm-tumor at the periampullary region bulging into the duodenal lumen. Microscopically, both tumors were composed of solid nests of squamous cells with pearl formation and mucin-containing glandular cells and diagnoses were adenosquamous carcinoma. Furthermore, histo- and immunohistochemical findings were consistent with microscopic diagnoses.     

B lymphocytes secreting IgG linked to latent transforming growth factor- beta prevent primary cytolytic T lymphocyte responses

B lymphocytes secreting IgG linked to latent transforming growth factor (TGF)-beta (IgG-TGF-beta) prevent cytolytic T lymphocyte (CTL) responses to unrelated antigens in mixed lymphocyte cultures (MLC) so long as resting resident macrophages and functional Fc receptors are present. This was shown using IgG-secreting plaque-forming cells (PFC) to sheep erythrocytes (SRBC) obtained from popliteal lymph nodes of mice injected repeatedly in foot pads with SRBC. Remarkably, as few as approximately 300 PFC prevented CTL responses of 5 x 10(5) normal syngeneic spleen cells in MLC. Supranatants of short-term cultures of PFC also prevented CTL responses, and suppression was prevented by eliminating or dissociating IgG and TGF-beta present in supranatants or by antibody against active TGF-beta. Furthermore, the latency- associated peptide of latent TGF-beta was detected in approximately 10% of foci of IgG captured from single PFC, indicating that at least some B lymphocytes secrete IgG-TGF-beta as a complex. Resting resident macrophages (which do not produce latent TGF-beta) and functional Fc receptors were required for suppression, consistent with idea that IgG- TGF-beta is taken up through Fc receptors for IgG and that active TGF- beta, cleaved from latent TGF-beta of the complex, is delivered directly to potentially responding CTL. If CTL responses in man are similarly regulated by B lymphocytes, then an ongoing B cell response in patients with chronic viral infections or bearing immunogenic cancers may prevent effective therapeutic vaccination.