The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.

The last Crypto-Jews (Marranos) are the survivors of Spanish Jews who were persecuted in the late fifteenth century, escaped to Portugal and were forced to convert to save their lives. Isolated groups still exist in mountainous areas such as Belmonte in the Beira-Baixa province of Portugal. We report here the genetic study of a highly consanguineous endogamic population of Crypto-Jews of Belmonte affected with autosomal recessive retinitis pigmentosa (RP). A genome-wide search for homozygosity allowed us to localize the disease gene to chromosome 15q22-q24 (Zmax=2.95 at theta=0 at the D15S131 locus). Interestingly, the photoreceptor cell-specific nuclear receptor (PNR) gene, the expression of which is restricted to the outer nuclear layer of retinal photoreceptor cells, was found to map to the YAC contig encompassing the disease locus. A search for mutations allowed us to ascribe the RP of Crypto-Jews of Belmonte to a homozygous missense mutation in the PNR gene. Preliminary haplotype studies support the view that this mutation is relatively ancient but probably occurred after the population settled in Belmonte.

[A case of fulminant Mycoplasma pneumoniae pneumonia successfully treated by steroid therapy].

A 35-year-old previously healthy woman was admitted because of pulmonary infiltrates in both lungs and respiratory failure associated with Mycoplasma pneumoniae infection. Although she initially required temporary mechanical ventilatory assistance, her clinical condition improved dramatically in response to steroid therapy. In this report, we discussed the effectiveness of steroid therapy in treating a case of severe M. pneumoniae pneumonia.

Identification of a photoreceptor cell-specific nuclear receptor.

Nuclear receptors comprise a large and expanding family of transcription factors involved in diverse aspects of animal physiology and development, the functions of which can be modulated in a spatial and temporal manner by access to small lipophilic ligands and/or the specificity of their own localized expression. Here we report the identification of a human nuclear receptor that reveals a unique proximal box (CNGCSG) in the DNA-binding domain. The conservation of this feature in its nematode counterpart suggests the requirement for this type of P box in the genetic cascades mediated by nuclear receptors in a wide variety of animal species. The expression of this receptor, PNR (photoreceptor-specific nuclear receptor), appears strongly restricted in the retina, exclusively in photoreceptor cells. In human cell lines, PNR expression was observed in Y79 retinoblastoma along with other photoreceptor marker genes such as CRX. Among vertebrate receptors, PNR shares structural kinship with an orphan receptor TLX, and despite distinct differences in the DNA binding domain, PNR is able to recognize a subset of TLX target sequences in vitro. Analyses of the human PNR gene revealed its chromosomal position as 15q24, a site that has recently been reported as a susceptible region for retinal degeneration. These data support a role for PNR in the regulation of signalling pathways intrinsic to the photoreceptor cell function.

The distribution of sugar chains on the vomeronasal epithelium observed with an atomic force microscope.

The distribution of sugar chains on tissue sections of the rat vomeronasal epithelium, and the adhesive force between the sugar and its specific lectin were examined with an atomic force microscope (AFM). AFM tips were modified with a lectin, Vicia villosa agglutinin, which recognizes terminal N-acetyl-D-galactosamine (GalNAc). When a modified tip scanned the luminal surface of the sensory epithelium, adhesive interactions between the tip and the sample surface were observed. The final rupture force was calculated to be approximately 50 pN based on the spring constant of the AFM cantilever. Distribution patterns of sugar chains obtained from the force mapping image were very similar to those observed using fluorescence-labeled lectin staining. AFM also revealed distribution patterns of sugar chains at a higher resolution than those obtained with fluorescence microscopy. Most of the adhesive interactions disappeared when the scanning solution contained 1 mM GaINAc. The adhesive interactions were restored by removing the sugar from the solution. Findings suggest that the adhesion force observed are related to the binding force between the lectin and the sugars distributed across the vomeronasal epithelium.

[Intralobar pulmonary sequestration associated with asymptomatic aspergillosis: a case report].

One case of intralobar pulmonary sequestration associated with asymptomatic aspergillosis are reported. A 39-year-old woman was admitted to our hospital because of abnormal shadow in the right lower lobe detected on mass miniature chest X-ray. The patient had been asymptomatic, and an aortogram showed an anomalous artery originating from abdominal aorta and entering the abnormal shadow suggesting sequestration. The right S10 segmentectomy was done. With bacterial culture of fluid in the specimen and on microscopic investigation this proved to be an intralobar pulmonary sequestration infected with Aspergillus. This case shows the necessity of prompt resection of intralobar pulmonary sequestration, even if asymptomatic.

[Chronic Beryllium disease after exposure to low-beryllium-content copper].

A 24-year-old man was admitted to our hospital because of exertional dyspnea and abnormal shadows on chest X-ray film. He worked in a factory, where he was exposed to 1.8% beryllium-copper alloys. His job was to draw out heated beryllium-copper wire to make it more fine. Chest X-ray film and chest CT scan showed left-sided pneumothorax, diffuse fine reticulonodular shadows, and several cysts. Pulmonary-function tests showed a restrictive disorder and a low diffusing capacity. A specimen obtained by open-lung biopsy showed epithelioid cell granuloma and alveolitis, which were compatible with chronic beryllium disease. The beryllium content of the lung tissue was 0.045 microgram/gram. Beryllium lymphocyte transformation tests on blood and on bronchoalveolar lavage fluid were positive. Based on these findings, chronic beryllium disease was diagnosed. After treatment with 1 mg/kg of prednisolone daily, dyspnea disappeared. Then the dose was tapered slowly. In Japan, chronic beryllium disease is extremely rare, and to our knowledge only 22 other cases have been reported.