Susceptibility locus for non-obstructive azoospermia is localized within the HLA-DR/DQ subregion: primary role of DQB1*0604.

Non-obstructive azoospermia is a male infertility characterized by no or little sperm in semen as a result of a congenital dysfunction in spermatogenesis. Previous studies have reported a higher prevalence of particular human leukocyte antigen (HLA) antigens in non-obstructive azoospermia. As the expression of the RING3 gene located in the HLA class II region was predominant in the testis, mainly around spermatids and pachytene spermatocytes, it is tempting to speculate that RING3 is one of the strong candidate genes responsible for the pathogenesis of the disease. In this study, the genetic polymorphism in the RING3 gene was investigated by the direct sequencing technique. As a result, a total of 14 single nucleotide polymorphisms were identified. Among them, six were localized in the coding region but none of them was accompanied by an amino-acid substitution. No significant difference in the allelic distribution at these 14 polymorphic sites was observed between the patients and healthy controls, suggesting that the susceptible gene for non-obstructive azoospermia is not the RING3 gene. Then, in order to map the susceptibility locus for non-obstructive azoospermia precisely within the HLA region, 11 polymorphic microsatellite markers distributed from the SACM2L gene just outside the HLA class II region (187 kb telomeric of the DPB1 gene) to the OTF3 gene in the HLA class I region were subjected to association analysis in the patients. Statistical analysis of distribution in the allelic frequency at each microsatellite locus demonstrated that the pathogenic gene for non-obstructive azoospermia is located within the HLA-DR/DQ subregion. In fact, DRB1*1302 and DQB1*0604 were found to be strongly associated with non-obstructive azoospermia by polymerase chain reaction-based DNA typing. Further, haplotype analysis suggested that the DQB1*0604 allele may play a decisive role in the pathogenesis of non-obstructive azoospermia.

[Two elderly patients with sarcoidosis and Sjögren's syndrome].

Two elderly patients with sarcoidosis complicated with Sjögren's syndrome are described. Case 1: A 70-year-old woman was admitted due to dry eyes. Histological examination of a minor salivary gland specimen revealed lymphocytic infiltration, which was compatible with Sjögren's syndrome. Because uveitis was demonstrated, transbronchial lung biopsy (TBLB) was performed, to confirm a diagnosis of lung sarcoidosis. Histological examination of TBLB showed non-caseating granulomas compatible with sarcoidosis. Case 2: A 70-year-old woman was admitted due to dyspnea on exercise and blurred vision. Two years previously, Sjögren's syndrome was diagnosed because of a positive Shirmer test and positive SS-A antibody. Result of ophthalmic examination were compatible with uveitis. Histological examination of TBLB showed non-caseating granulomas compatible with sarcoidosis. Certain similarities between sarcoidosis and Sjögren's syndrome in terms of immunological aspects have attracted attention. In the present manuscript, a possible relationship between the two diseases as well as the characteristics of elderly sarcoidosis are discussed.

Functional anatomy of GO/NO-GO discrimination and response selection--a PET study in man.

The purpose of this study was to identify the functional fields activated in relation to the NO-GO decision. Nine healthy subjects participated in the study which consisted of two test positron emission tomography (PET) scans (GO/NO-GO task and response selection task) and one control scan. In the response selection task, subjects were asked to flex their thumb of the right hand when a light emitting diode (LED) placed 60 cm from their eyes turned on red and to flex their index finger of the right hand when LED turned on green. In the GO/NO-GO task, subjects were asked to flex their thumb when the LED turned on red, however, they were asked not to move their fingers when LED turned on green. In the control state, they were asked simply to look at the LED without any movement of finger during the course of the scan. The mean regional cerebral blood flow (rCBF) change images for each task minus control and task minus task were calculated and fields of significant rCBF changes were identified. Several fields in the prefrontal cortex of the right hemisphere were specifically activated in relation to the GO/NO-GO task. The results indicate that the prefrontal cortex of the right hemisphere may be a key structure to make a decision not to move.

A case of varicella-zoster myelopathy.

INTRODUCTION: Early diagnosis of neurological complications of varicella-zoster virus (VZV) is important because of its treatability. We performed polymerase chain reaction (PCR) to detect VZV-DNA from the cerebrospinal fluid (CSF) of a patient with myelopathy. PATIENT & METHODS: A 69-year-old man developed sensory disturbances in the lower extremities and bladder-bowel disturbances, followed by cutaneous zoster on his left arm. Polymerase chain reaction was applied to identify the viral DNA in CSF. RESULTS: The increased antibody index of VZV and herpes simplex virus (HSV) in the CSF suggested intrathecal synthesis of IgG antibodies to these viruses. VZV-DNA was detected in the CSF by nested PCR, but neither HSV-1 nor HSV-2 DNA was detected in CSF. He was successfully treated with acyclovir and prednisolone. CONCLUSION: PCR may be a useful tool for the diagnosis of VZV myelopathy.

Topographic representation in human intraparietal sulcus of reaching and saccade.

Regional cerebral blood flow was measured by positron emission tomography in seven subjects during reaching with saccade, reaching without saccade, saccade and control tasks. The reaching with saccade task activated two spatially distinct areas in the contralateral intraparietal sulcus (IPS) compared with the control condition. The area located in the anterior part of the IPS was also activated during the reaching without saccade but not during the saccade task. The other area, located in the posterior part of the IPS was, in contrast, active during the saccade but not the reaching without saccade task. The results indicate that the human IPS is functionally heterogeneous, and that functional roles of its anterior and posterior parts include control of reaching movements and eye movements, respectively.

Changes in regional cerebral blood flow during self-paced arm and finger movements. A PET study.

The purpose of this study was to identify the functional fields activated in relation to the self-paced proximal and distal arm movements. The regional cerebral blood flow (rCBF) was measured with positron emission tomography (PET) and 15O-labelled H2O (H2(15)O) in eight healthy subjects. All subjects performed the following three tasks: (1) repetitive opposition of thumb and index finger of the right hand, (2) repetitive co-contraction of biceps and tricepts brachii muscles of the right arm, and (3) rest. The mean rCBF change images for each task minus control was calculated and fields of significant rCBF changes were identified. Each movement activated different fields in the primary motor area (MI), the dorsal aspect of the premotor area (PMA) and the superior part of the prefrontal area (PFA) of the contralateral hemisphere. In these areas, arm fields were located relatively dorsally to the finger fields. In addition, specific fields in the ventral part of the PMA, the supplementary motor area (SMA), the superior parietal lobule (SPL) of the contralateral hemisphere, and the ipsilateral PFA were consistently activated during both movements. Due to a limited a field of view of the PET scanner in the axial direction, the PET scan could not cover the cerebellum. The results indicate that there may be somatotopical organization not only in the MI but also in the dorsal part of the PMA and the PFA, and that the specific fields in the ventral part of the PMA, the SMA, the SPL, and the PFA may be involved in self-paced movement.

[Cesarean section in a patient with uncontrolled hyperthyroidism, preeclampsia, and congestive heart failure].

A case of a pregnant woman who underwent urgent cesarean section is presented. The patient had severe hyperthyroidism, preeclampsia, and congestive heart failure, which had not been treated until 36 weeks of gestational age. At 38 weeks, fetal distress occurred and an urgent cesarean section was performed successfully under epidural anesthesia with preoperative treatments using iodide, hydrocortisone and propylthiouracil. The patient required postoperative intensive care for heart failure. Thyroid function of the neonate was almost normal. No abnormality was observed except low birth weight.

Activity in the human primary motor cortex related to arm and finger movements.

With the purpose of mapping representations of the finger and proximal arm in the human primary motor cortex (MI), we measured regional cerebral blood flow (rCBF) in eight right-handed normal volunteers during self-paced finger and proximal arm movements. Each movement activated two different fields in MI, one located deep in the anterior lip of the central sulcus and the other relatively close to the surface of the precentral gyrus. Arm fields were located higher than finger fields. A superficial arm field and a deep finger field partially, overlapped. The results indicate that there are two spatially separate motor representations of the finger and proximal arm in the human MI.