Familial aplasia of the inferior rectus muscles

PURPOSE: We describe inferior rectus aplasia in three members of a family. No family member showed signs of craniofacial dysostosis syndromes or neurofibromatosis. PATIENTS AND FINDINGS: A woman with abnormal head posture, right exotropia, and right hypotropia presented to our clinic. She mentioned that her two children had similar problems. A provisional diagnosis of ocular fibrosis or atypical Duane syndrome was made and she underwent surgery. During surgery, the inferior rectus muscle could not be identified in either eye. Subsequently, her children were examined and orbital magnetic resonance imaging (MRI) was performed for all family members. MRI confirmed bilateral absence of the inferior rectus muscles in the mother and unilateral absence with atrophic and fibrotic contralateral inferior rectus muscles in the children. CONCLUSION: This is the first report in the literature of a family with aplastic inferior rectus muscles with no signs of craniosynostosis or neurofibromatosis.     

Clinical and diagnostic comparison of neonatal alloimmune thrombocytopenia to non-immune cases of thrombocytopenia

BACKGROUND: Affected patients with neonatal alloimmune thrombocytopenia (AIT) are often severely thrombocytopenic and, if so, may suffer an intracranial hemorrhage (ICH). This study was undertaken to compare the outcome of cases of AIT to cases of neonatal thrombocytopenia shown not to be AIT and to identify clinical features that would facilitate the diagnosis. PROCEDURE: Two hundred twenty two cases of neonatal thrombocytopenia for which serologic testing was obtained by the referring physician were accrued for this study from 11 testing laboratories. The relevant clinical information was pursued. RESULTS: The mean birth platelet count in 110 neonates with AIT was 26,000/mm(3) x 10(9)/L and the rate of ICH was 11% (not all neonates had head sonos). Three criteria distinguished cases of AIT from other causes of neonatal thrombocytopenia (n = 56): (1) severe thrombocytopenia <50,000/mm(3) x 10(9)/L; (2) ICH associated with 1 or more of: a 1-min Apgar score >5, birthweight >2,200 g, grade >1, antenatal occurrence, or signs of bleeding, that is, petechiae, ecchymoses; and (3) no additional, non-hemorrhagic neonatal medical problems. CONCLUSIONS: AIT is a unique type of neonatal thrombocytopenia with significant hemorrhagic consequences. Identification of AIT at the bedside should guide institution of appropriate treatment and lead to serologic testing for confirmation.     

p130Rb2 and p27kip1 cooperate to control mobilization of angiogenic progenitors from the bone marrow

Neoangiogenesis involves both bone marrow-derived myelomonocytic and endothelial progenitor cells as well as endothelial cells coopted from surrounding vessels. Cytokines induce these cells to proliferate, migrate, and exit the cell cycle to establish the vasculature; however, which cell cycle regulators play a role in these processes is largely unknown. Here, we report that mice lacking the cell cycle inhibitors p130 and p27 show defects in tumor neoangiogenesis, both in xenografts and spontaneously arising tumors. This defect is associated with impaired mobilization of endothelial and myelomonocytic angiogenic progenitors from the bone marrow. This article documents the role of these molecules in angiogenesis and further suggests that cell expansion and mobilization from the bone marrow of angiogenic precursors are separable events.     

Serotype distribution and antimicrobial susceptibility of <Emphasis Type="Italic"> Streptococcus pneumoniae </Emphasis>causing invasive infections and acute otitis media in children

A prospective study was conducted to determine the serotypes and antibiotic resistance patterns of pneumococcal isolates from children with invasive pneumococcal disease (IPD) and acute otitis media (AOM). From October 2001 to May 2002, 65 children with IPD (28 bacteraemic pneumonia, 24 bacteraemia without focus, 7 meningitis, 6 other infections) and 78 with AOM were identified. The most common serotypes causing IPD were 14 (32.3%), 6B (20.0%), 1 (18.5%) and 19F (7.7%) whereas the predominant serotypes causing AOM were 19F (35.9%), 14 (16.7%) and 23F (9.1%). Sixty-nine percent of IPD and 70.5% of AOM were caused by vaccine serotypes. The vaccine serotypes were more commonly encountered in meningitis cases and in children younger than 2 years of age. Intermediate resistance to penicillin was observed in 6 of 65 (9.2%) IPD isolates, one of which was intermediately resistant to cefotaxime (1.6%), whereas none exhibited high-level resistance to penicillin or other beta-lactam antibiotics. A higher proportion of antimicrobial resistance was noted in AOM isolates; 29 of 78 (37.4%) exhibited intermediate resistance and 8 (10.2%) high level resistance to penicillin, four of which had intermediate resistance to cefotaxime. Significant resistance was also noted to erythromycin; 38.5% of IPD and 48.7% of AOM isolates were resistant. Multidrug resistance was observed in one IPD and in eight AOM isolates. Conclusion:these findings have implications in the potential use of 7-valent conjugate vaccine in our region.Abbreviations AOM acute otitis media - IPD invasive pneumococcal disease - MIC minimal inhibitory concentration     

The effects of gastric surgery on systemic ghrelin levels in the morbidly obese

HYPOTHESIS: Circulating ghrelin, produced primarily in the stomach, is a powerful orexigen. Ghrelin levels are elevated in states of hunger, but rapidly decline postprandially. Early alterations in ghrelin levels in morbidly obese patients undergoing weight reduction surgery may be attributed to gastric partitioning. DESIGN AND PATIENTS: Thirty-four patients underwent Roux-en-Y gastric bypass with a completely divided gastroplasty to create a 15-mL vertically oriented gastric pouch. Eight other patients underwent other gastric procedures that did not involve complete division of the stomach, including 4 vertical banded gastroplasties and 4 antireflux surgical procedures. Six additional patients undergoing antireflux surgery served as lean control subjects. Plasma samples were obtained before surgery and immediately after surgery. In a substudy, plasma was collected after Roux-en-Y limb formation and after dividing the stomach to identify any changes in plasma ghrelin levels. SETTING: Tertiary university medical center. MAIN OUTCOME MEASURES: Ghrelin levels at different stages of surgical intervention. RESULTS: Mean +/- SEM preoperative and postoperative ghrelin levels in the gastric bypass group were 355 +/- 20 and 246 +/- 13 pg/mL, respectively (P<.001). In the vertical banded gastroplasty group and in all patients undergoing antireflux surgery, ghrelin levels were not significantly changed. CONCLUSIONS: Compared with morbidly obese humans, lean controls had significantly higher plasma ghrelin levels at baseline. A divided gastroplasty creating a small proximal gastric pouch results in significant early declines in circulating ghrelin levels that are not observed with other gastric procedures. This may explain, in part, the loss of hunger sensation and rapid weight loss observed following gastric bypass surgery.     

Hypoparathyroidism and heart failure in thalassemic patients: a case report

Hypocalcemic cardiomyopathy due to primary or secondary hypoparathyroidism is usually refractory to conventional treatment for cardiac failure but responds favorably to the restoration of normocalcemia. We report on a thalassemic patient with severe cardiac failure due to hypocalcemia. Cardiac echocardiography showed impaired biventricular performance and laboratory analyses revealed hypoparathyroidism due to hemosiderosis. Concomitant treatment for heart failure and calcium supplementation was initiated. Thereafter, clinical and laboratory improvement was achieved. In the literature of thalassemic disorders, this is the first case of heart failure associated with hypoparathyroidism in which the patient recovered significantly after the correction of hypocalcemia, providing strong evidence to support our hypothesis of hypocalcemic myocardiopathy.     

Langerhans' cell histiocytosis in an adult patient manifested as recurrent skull lesions and Diabetes Insipidus

We describe a 57-year old female with the diagnosis of skull and meningeal Langerhans' cell histiocytosis who was treated with the combination of azathioprine and methotrexate. Although the skull lesions improved considerably on this regimen, the patient developed diabetes insipidus while the anterior pituitary function remained intact.