Achondroplasia-hypochondroplasia complex in a newborn infant.

We describe the case of an 8-month-old girl with achondroplasia-hypochondroplasia complex. The diagnosis was suggested antenatally when obstetrical ultrasonography at 27 weeks of gestation showed short limbs, small chest, and macrocephaly. The father has achondroplasia due to the common G1138A (G380R) mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, while the mother has hypochondroplasia due to the C1620G (N450K) mutation in the FGFR3 gene. Neither had had genetic counseling or molecular testing prior to the pregnancy. Antenatal ultrasound study at 29 weeks of gestation showed a large head, very short limbs, and a small chest; the findings were more severe than in achondroplasia or hypochondroplasia alone. The patient was born by cesarean section at 37 weeks of gestation and had rhizomelic shortness of limbs with excess skin creases, large head, and small chest, diagnostic of achondroplasia. Radiographs showed shortness of the long bones and flaring of the metaphyses. She had mild hypoplasia of lungs. Molecular testing showed both the G1138A and the C1620G mutations in FGFR3, confirming the diagnosis of achondroplasia-hypochondroplasia complex. At 8 months, she has disproportionate shortness of the long bones and a large head with frontal bossing and a depressed nasal bridge. Her chest remains small, and she is on home oxygen at times of respiratory stress. She has a large gibbus. She is delayed in her motor development and has significant head lag. To our knowledge, there is only one previously published report of achondroplasia-hypochondroplasia complex.     

肺不藏魄型失眠模型大鼠相关脏器多巴胺D1、D2受体表达差异研究

目的:探讨肺不藏魄型失眠模型大鼠相关脏器中多巴胺D1、D2受体的表达差异。方法:将16只大鼠用随机数字表法分为对照组和失眠模型组,每组8只。失眠模型组采用小平台水环境法进行造模,造模9 d。造模成功后,取两组大鼠的肺、大肠、脑、心、肝、脾和肾组织,采用HE染色观察肺和脑的病理变化,免疫组化法观察各组织中多巴胺D1、D2受体的表达。结果:失眠模型组肺组织HE染色可见肺泡壁毛细血管轻微扩张充血、纤维结缔组织增生致使肺泡壁增厚、肺泡腔可见巨噬细胞;脑组织未见明显病理改变。与对照组比较,在肺、大肠、脑、心中,失眠模型组D1受体表达明显升高(P<0.05),D2受体表达明显降低(P<0.05)。结论:肺不藏魄型失眠模型大鼠肺、大肠、脑、心中多巴胺D1受体表达明显增加,D2受体表达明显降低,说明D1受体表达增加,D2受体表达降低与肺不藏魄型失眠机制密切相关,是该型失眠模型的失眠机制之一。     

Genetic Polymorphism of GSTP1, GSTM1 and GSTT1 Genes and Susceptibility to Chronic Myeloid Leukaemia

Background: The development of cancer results from an imbalance between exposure to carcinogens and the capacity of various enzyme systems engaged in activation or in the detoxification of xenobiotics. The aim of the present study is to investigate the association of GSTP1, GSTM1 and GSTT1 gene polymorphisms in susceptibility to Chronic Myeloid Leukaemia (CML). Methods: A total of 200 CML patients and 100 controls were enrolled in a case-control study with GSTM1 and GSTT1 analysis with PCR and GSTP1 analysis with PCR-RFLP. Results: The GSTT1 null genotype was significantly higher among CML patients suggesting that this genotype is associated with an increased risk of CML. It was found in 42% of cases as compared with 21% of the controls, (OR =2.78, 95% CI: 1.59 - 4.85; p-value =0.000). The presence of the GSTT1 genotype may thus be considered a protective factor for CML. The frequency of individuals carrying GSTM1 null genotype was slightly higher in the control group but this difference was not statistically significant. The GSTM1 null genotype was present in 35% of control cases and 34% of the CML patients, (OR=0.975, 95%CI: 0.58-1.58;p-value=0.863). Individuals with a combined GSTM1 null/GSTT1null genotype had an estimated 2.85-fold increased risk of CML, but no associated risk between GSTP1 Ile 105 Val polymorphism and CML was found (OR=1.99, 95% CI: 0.40 - 9.32; p-value = 0.417). Conclusions: No association between GSTP1 and GSTM1 with susceptibility to CML was found. GSTT1 genotype may be a protective factor for CML, while the null genotype shows association with developing CML.     

Dacryoadenitis due to gonococcal conjunctivitis complicated by corneal perforation

Adnexal and periocular involvement in Neisseria gonorrhoeae (NG) infection is rare. This report describes the case of a patient with a delayed diagnosis of gonococcal dacryoadenitis with contiguous conjunctivitis and corneal involvement. She underwent extensive inpatient laboratory and infectious workup but rapidly progressed to corneal perforation requiring emergent penetrating keratoplasty prior to a positive culture confirming the diagnosis. To date, this is the first reported case of ophthalmologic NG infection with associated conjunctivitis, dacryoadenitis, and corneal perforation.     

Single‐dose intravenous gammaglobulin can stabilize neutrophil Mac‐1 activation in sickle cell pain crisis

Intravenous immunoglobulin (IVIG) decreases neutrophil adhesion to endothelium and red blood cell‐neutrophil interactions in sickle cell mice undergoing vaso‐occlusion. In this Phase I clinical trial of sickle cell anemia (SCA) patients admitted with pain crisis, we evaluated the status of adhesion molecules on neutrophils in control and IVIG‐treated subjects pre‐ and post‐infusion up to 800 mg/kg, the same dose used in murine studies. Mac‐1 function significantly decreased from baseline in the low‐dose IVIG (200–400 mg/kg) cohorts. IVIG‐related adverse events may have occurred in the high‐dose (600–800 mg/kg) cohorts. There were no significant increases in neutrophil and leukocyte counts, suggesting that IVIG may more selectively inhibit Mac‐1 function as opposed to neutrophil adhesion. This study provides the first in‐human validation of pre‐clinical murine studies that IVIG can decrease Mac‐1 function. Am. J. Hematol. 90:381–385, 2015. © 2015 Wiley Periodicals, Inc.