A case of distal 9q trisomy syndrome associated with an unusual inheritance of ABO blood type

A male infant with distal 9q trisomy syndrome associated with an unusual inheritance of ABO blood type is reported. His clinical features were concordant with those of distal 9q trisomy syndrome. His karyotype was 46,XY, ?10, +der (10) t(9;10) (q22.3;q24.3) confirmed by G-banding and high resolution methods. His father had the balanced translocation t(9;10) (q22.3;924.3). He had a blood type of AB, despite his father's blood type of AB and his mother's blood type of O. The gene of ABO blood type is located at 9q34.1-q34.2. Therefore, he would have received A and B type alleles from his father. 9q trisomy syndrome should be carefully investigated with ABO blood type.     

EXPRESSION OF PARATHYROID HORMONE (PTH)-RELATED PEPTIDE (PTHrP) AND PTH/PTHrP RECEPTOR IN GIANT CELL TUMOUR OF TENDON SHEATH

The giant cell tumour of tendon sheath (GCTTS) is mainly composed of mononucleated stromal cells (SC) and multinucleated giant cells (GC), so-called osteoclast-like GC. It is thought that GC are derived from SC, but their precise relationship is not fully understood. Parathyroid hormone (PTH)-related peptide (PTHrP) is now considered to be a cytokine for cell differentiation, which may stimulate osteoclast-like cell formation in haematopoietic cells. Five cases of GCTTS were evaluated immunohistochemically, using a variety of antibodies against PTHrP, PTH/PTHrP receptor, KP-1 as a histiocytic phenotypic antigen, fibronectin as a fibroblastic phenotypic antigen, and proliferating cell nuclear antigen (PCNA). In situ hybridization and immunohistochemistry revealed that in all cases both SC and GC expressed PTHrP. PTH/PTHrP receptor was observed only in histiocytic SC and GC, but not in fibroblastic SC. Almost all GC showed histiocytic features. PCNA immunoreactivity was detected only in the nuclei of SC, and not in GC. Moreover, SC with PTH/PTHrP receptor immunoreactivity were negative for PCNA. These results suggest that GC are derived from histiocytic SC expressing PTH/PTHrP receptor and losing proliferative activity in the process of transition from mononuclear to multinucleated. PTHrP produced by SC and GC may be involved in the formation of osteoclast-like cells in GCTTS by acting in an autocrine/paracrine fashion.     

Successful treatment of primary aldosteronism due to computed tomography-negative microadenoma

We report a case of aldosterone-producing microadenoma that was correctly diagnosed and thus treated less invasively by laparoscopic adrenalectomy. A 58-year-old woman presented with palpitation and muscular weakness. She exhibited hypertension, hypokalemia and increased aldosterone excretion with suppressed renin activity. Therefore, primary aldosteronism was suggested. Although adrenal scintigram and computed tomography findings in the adrenal glands were normal, adrenal venous sampling tests indicated an overproduction of aldosterone in the right adrenal gland. We diagnosed an aldosterone-producing microadenoma in the right adrenal gland and performed an adrenalectomy. The patient became normotensive postoperatively and histopathological examination demonstrated a microadenoma, 5 mm in diameter.     

Investigation of goal change to optimize upper-extremity motor performance in a robotic environment

Robotic devices for therapy have the potential to enable intensive, fully customized home rehabilitation over extended periods for individuals with stroke and traumatic brain injury, thus empowering them to maximize their functional recovery. For robotic rehabilitation to be most effective, systems must have the capacity to assign performance goals to the user and to increment those goals to encourage performance improvement. Otherwise, individuals may plateau at an artificially low level of function. Frequent goal change is needed to motivate improvements in performance by individuals with brain injury; but because of entrenched habits, these individuals may avoid striving for goals that they perceive as becoming ever more difficult. For this reason, implicit, undetectable goal change (distortion) may be more effective than explicit goal change at optimizing the motor performance of some individuals with brain injury. This paper reviews a body of work that provides a basis for incorporating implicit goal change into a robotic rehabilitation paradigm. This work was conducted with individuals without disability to provide foundational knowledge for using goal change in a robotic environment. In addition, we compare motor performance with goal change to performance with no goal or with a static goal for individuals without brain injury. Our results show that goal change can improve motor performance when participants attend to visual feedback. Building on these preliminary results can lead to more effective robotic paradigms for the rehabilitation of individuals with brain injury, including individuals with cerebral palsy.     

A case retaining contact urticaria against egg white after gaining tolerance to ingestion

A girl, 5.7 years old, gained tolerance to egg white ingestion in spite of high immunoglobulin E (IgE) antibody titers to egg white but retained contact urticaria against egg white. She developed atopic dermatitis on her face at 2 months of age and showed high IgE antibody titers to egg white and cow's milk. Accidental ingestion of egg products initiated immediate symptoms such as wheezing, urticaria, erythema and edema of the eyelids and conjunctiva three times. These symptoms were confirmed by challenge tests using boiled egg white at 3.9 years of age. She also reacted positively to a 20 min patch test on her volar arm with raw egg white. However, there were no reactions to the oral challenge test by boiled egg and freeze-dried egg white at 5.1 and 5.7 years of age, respectively. This non-responsiveness was confirmed by a double-blind, placebo-controlled food challenge using freeze-dried egg white. Nevertheless, she showed positive reactions to a 20 min patch test with freeze-dried egg white. Her IgE antibody titers to the egg white components including ovomucoid, ovalbumin, ovotransferrin and lysozyme as well as egg white were high from 2.9 to 5.7 years old. Her IgE antibody titers for the ovomucoid fragments digested by pepsin, chymotrypsin and trypsin were not lower than those of positive control subjects. The binding activity of IgE antibody to ovomucoid, however, decreased from 2.9 to 5.6 years as shown by radioallergosorbent test (RAST) inhibition assays. The IgE antibody showed weaker binding activity to pepsin- and chymotrypsin-digested ovomucoid that were filtered through cut-off 10 000 filter at the age of 2.1 and 5.7 years. We speculated that the maturation of secretion of digestive enzymes was involved in the mechanisms of the acquisition of tolerance to egg white ingestion in spite of the persistence of contact urticaria.     

Evaluation of sleep using ambulatory skin potential recording:Differences between morning and evening type

Abstract In order to validate the evaluation of sleep using cassette type ambulatory skin potential measurement system (C-SPA), sleep duration variables extracted from 24 h recordings were compared between two groups (16 of the intermediate type and 16 of the evening type) with different sleep-wake habits rated by Morningness and Eveningness Questionnaires (MEQ). Compared with the intermediate type, the evening type subjects go to bed and get up later, have difficulty in falling asleep and more frequently awaken during sleep. Thus, the sleep variables by C-SPA provide valuable information about duration of sleep and differentiate the Sleep-wake habits.     

Changes in Autonomic Nervous Activity after Catheter Ablation of Atrial Tachycardia Arising from the Atrioventricular Annulus

Radiofrequency (RF) catheter ablation of supraventricular tachycardias causes local parasympathetic denervation. This study used heart rate variability (HRV) to evaluate the effects of ablation of atrial tachycardia (AT) arising from the atrioventricular annulus (AVAT) on autonomic function. Ten patients with AVAT were referred for ablation (group AT) and compared with 8 patients with paroxysmal atrial fibrillation who underwent PV isolation (group Paf), and 13 patients with idiopathic ventricular tachycardia successfully treated by ablation (group VT). Time and frequency domain analysis of HRV on 24-hour ambulatory ECG recordings was performed before and after ablation. Root mean square of differences of consecutive N-N intervals (rMSSD), percentage of difference between consecutive N-N intervals >50 ms (pNN50), and high frequency (HF) component were measured to examine the effects on parasympathetic nerve activity. In group AT, rMSSD, pNN50, and HF decreased significantly after ablation, while they remained unchanged in group Paf and group VT. These observations suggest that parasympathetic denervation after ablation was limited to group AT, and depended on the site of energy delivery along the tricuspid or mitral valve as opposed to atrial or ventricular muscle.     

Protocol consisting of cisplatin, etoposide and irinotecan induced complete pathological remission of primary small cell carcinoma of the bladder

A 73-year-old man with primary small-cell carcinoma of the bladder was treated by radical cystectomy with neoadjuvant chemotherapy. Pathological complete remission was achieved by combination chemotherapy composed of cisplatin, etoposide and irinotecan. The patient is free of disease 19 months after surgery.     

Epithelial stromal tumor of the seminal vesicle

Primary tumors of the seminal vesicles are rare neoplasms; there have been only 69 accepted cases. The histologic features are usually adenocarcinoma; however, there are rarely reported epithelial stromal tumors of the seminal vesicles. We report a case of a 70-year-old man with an epithelial stromal tumor of the seminal vesicle who presented without symptoms of bladder outlet obstruction. The patient underwent radical cystoprostatectomy. No signs of tumor recurrence were noted within 14 months of surgery. To our knowledge, 13 cases of epithelial stromal tumors of the seminal vesicle have been previously reported.