Bilateral optic disc pit with maculopathy in a patient with cleft lip and cleft palate

Optic disc pit (ODP) is small, gray-white, oval depression found at the optic nerve head. It is a congenital defect that occurs due to imperfect closure of superior edge of the embryonic fissure. Cleft lip and palate are also congenital midline abnormalities occurring due to defect in the fusion of frontonasal prominence, maxillary prominence and mandibular prominence. There is only one case report describing the occurrence of ODP in a young patient with cleft lip and palate who also had basal encephalocele. We describe a 52-year-old patient with congenital cleft lip and palate with bilateral ODP with maculopathy but without any other midline abnormality.     

High-resolution ultrasonography in carpal tunnel syndrome: role of ancillary criteria in diagnosis and response to steroid injection

Clinical Rheumatology - (1) Development and validation of a composite ultrasound score (cUSS) for the diagnosis of carpal tunnel syndrome (CTS). (2) To predict treatment response after local...     

Hormone dependency of rat mammary carcinoma--a comparison of two assay systems.

Succinic dehydrogenase activity of the DMBA induced tumor explants cultured with or without hormones was assessed histochemically while receptors for estrogen (ER) and progesterone (PgR) were estimated from the cytosol fraction of the tumor tissue. Tumor regression following ovariectomy (OVX) was kept as the end point for determining hormone dependency. By in vitro method positive correlation was observed in 5 of 6 responsive or hormone dependent tumors, and 13 out of 14 independent tumors. Presence of receptors (ER + PgR, PgR) correlated with responsiveness in 4 of 6 tumors while their absence in the non-responsive group correlated in 6 of 14 tumors. Prolactin responsive tumors did not regress following OVX even if ER + PgR or ER/PgR were present. Using the same tumor tissue the results of hormone dependency by the two methods were identical in only 9 of 20 tumors.     

Endoscopic biopsy diagnosis of acute gastrointestinal graft-versus-host disease: rectosigmoid biopsies are more sensitive than upper gastrointestinal biopsies

OBJECTIVES: The diagnosis of gastrointestinal (GI) graft- versus -host disease (GVHD) is based upon histologic findings in endoscopic mucosal biopsy specimens. The portion of the GI tract with the highest diagnostic yield is a topic of debate. Our aim was to evaluate the sensitivity of simultaneous biopsy of the stomach, duodenum, and rectosigmoid in establishing the diagnosis of GI GVHD.
METHODS: We identified 112 patients who had simultaneous endoscopic biopsies of the stomach, duodenum, and rectosigmoid within the first 100 days following allogeneic hematopoietic stem cell transplantation (HSCT). GVHD was defined histologically as the presence of gland apoptosis, not explained by other inflammatory or infectious etiologies. The patient was diagnosed with GI GVHD if at least one biopsy site was positive.
RESULTS: Overall, 81% of the patients had GI GVHD. Of these, 66% had involvement at all three biopsy sites. Rectosigmoid biopsies had the highest sensitivity, specificity, positive predictive value, and negative predictive value for diagnosing GI GVHD, at 95.6%, 100%, 100%, and 84%, respectively. The sensitivities of gastric and duodenal biopsies were 72.5% ( P < 0.0001 vs rectosigmoid) and 79.2% ( P = 0.0018), respectively. The negative predictive values of gastric and duodenal biopsies were 45.6% ( P = 0.0039 vs rectosigmoid) and 52.5% ( P = 0.0205), respectively. Rectosigmoid biopsies had a higher sensitivity and negative predictive value than biopsies at other sites whether the patient presented with diarrhea or nausea/vomiting. No association between the degree of mucosal injury and the presence of GVHD was found at any site.
CONCLUSIONS: Biopsy of the rectosigmoid is the single best test for diagnosing GI GVHD.     

Impaired survival of peripheral T cells, disrupted NK/NKT cell development, and liver failure in mice lacking Gimap5

The loss of Gimap5 (GTPase of the immune-associated protein 5) gene function is the underlying cause of lymphopenia and autoimmune diabetes in the BioBreeding (BB) rat. The in vivo function of murine gimap5 is largely unknown. We show that selective gene ablation of the mouse gimap5 gene impairs the final intrathymic maturation of CD8 and CD4 T cells and compromises the survival of postthymic CD4 and CD8 cells, replicating findings in the BB rat model. In addition, gimap5 deficiency imposes a block of natural killer (NK)- and NKT-cell differentiation. Development of NK/NKT cells is restored on transfer of gimap5(-/-) bone marrow into a wild-type environment. Mice lacking gimap5 have a median survival of 15 weeks, exhibit chronic hepatic hematopoiesis, and in later stages show pronounced hepatocyte apoptosis, leading to liver failure. This pathology persists in a Rag2-deficient background in the absence of mature B, T, or NK cells and cannot be adoptively transferred by transplanting gimap5(-/-) bone marrow into wild-type recipients. We conclude that mouse gimap5 is necessary for the survival of peripheral T cells, NK/NKT-cell development, and the maintenance of normal liver function. These functions involve cell-intrinsic as well as cell-extrinsic mechanisms.