Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32

Some MCP SNP and aHUS-associated MCP mutation     

Recurrent venous thrombosis following free flap surgery: The role of heparin-induced thrombocytopenia

Complications following free tissue transfer have been well established in the literature. Common and rare causes of free flap failure must be addressed by the treating surgeon when microvascular patency is threatened. With the evolution and prevalence of microsurgery, ‘rare’ causes of free flap failure will become increasingly frequent. A high index of suspicion must be established in patients with multiple failed operative interventions. A case of recurrent free flap failure secondary to heparin-induced thrombocytopenia is presented in a patient with a history of squamous cell carcinoma of the floor of the mouth, and a long-standing history of alcohol and tobacco consumption.     

The relationship between the Stiles–Crawford effect of the first kind (SCE-I) and myopia

The Stiles-Crawford effect of the first kind (SCE-I) was measured on both emmetropic and myopic subjects at six different retinal locations. The results revealed a number of significant discrepancies in receptor alignment between the groups of different refractive errors. In myopic subjects, the receptors in the nasal retina (i.e. between the fovea and the optic nerve head) were found to be aligned nasally towards the optic nerve head, whereas the receptors in the temporal retina were aligned towards the centre of the exit pupil. In emmetropic subjects, the receptors across the retina were finely tuned towards the centre of the exit pupil. The magnitude of the receptor displacement in myopic subjects was found to be directly associated with the length of the eyeball.     

Primary Localized Cutaneous Lichen Amyloidosus of the vulva

A woman, age 72, gravida 5, para 5, was hospitalized for a vulvar biopsy. Her past history revealed a generally healthy woman, menopausal from the age of 53, who had a vaginal hysterectomy and repair at the age of 68 because of genital prolapse. One year before her present admission, the woman started complaining of pruritus vulvae, which progressively worsened. On admission, general physical examination revealed no outstanding pathologic findings; gynecologic examination revealed advanced atrophy of the external genitalia and the vaginal wall. The clitoris and the small labia were atrophic, scarred, and only slightly elevated off the surface (Fig. 1). The vulvar skin was shiny with scattered white patches that were not elevated and had no shiny borders. The rectal examination was normal, and inguinal lymph nodes were not palpable. Laboratory tests revealed the following: sedimentation rate 15/26, hemoglobin 15 gidl, WBC 6400/mm³ (with normal differential count), thrombocytes 150,000/mm-³, serum alkaline phosphatase 100 mu/ml (normal 30–85), uric acid 7 mg/dl (upper normal value 6.4). Serum electrolytes, blood urea nitrogen, glucose, cholesterol, creatinine, total proteins, albumin, glutamic ox-aloacetic transaminase, lactic dehydrogenase, creatine phosphokinase, diastase, urine analysis, chest x-ray, and electrocardiogram were normal. Vulvar biopsy was per-formed under general anesthesia. Histologic examination of vulvar skin was as follows: the epidermis was hyperkeratotic with granulosis and acanthosis (Fig. 2). There were enlarged blood vessels in the dermis with thickened and hyalinized walls and foci of infiltration of round cells. The papillaris and reticularis revealed amorphic areas that stained positively with Congo red (Fig. 3). The histologic diagnosis was amy-loidosis of the vulvar skin. After the histologic report was received, further investiga-tions were done, as follows: urine Bence Jones protein was negative, serum protein electrophoresis and immunoelec-trophoresis were normal, and no free light chains were found in the plasma. Serum antinuclear factor and tubercu-lin skin test were negative. The patient refused to undergo rectal biopsy. She was initially treated with local application of testosterone ointment. After 2 months of treatment, the itching worsened and we started with applications of iso-conazole nitrate and diflucortolone valerate. This treatment was followed by prompt relief of symptoms, although the gross appearance of the lesions had not changed. One year later, the patient feels well and refuses repeat biopsy.     

Major histocompatibility complex class II (HLA-DRB and -DQB) allele frequencies in Botswana: association with human immunodeficiency virus type 1 infection

Southern Africa is facing an unprecedented public health crisis due to the high prevalence of human immunodeficiency virus type 1 (HIV-1). Vaccine development and testing efforts, mainly based on elicitation of HIV-specific T cells, are under way. To understand the role of human leukocyte antigen (HLA) class II alleles in HIV pathogenesis and to facilitate HLA-based HIV-1 vaccine design, we analyzed the frequencies of HLA class II alleles within the southern African country of Botswana. Common HLA class II alleles were identified within the Botswana population through the molecular genotyping of DRB and DQB1 loci. The DRB1 allele groups DRB1*01, DRB1*02/15, DRB1*03, DRB1*11, and DRB1*13 were encountered at frequencies above 20%. Within the DQB1 locus, DQB1*06 (47.7%) was the most common allele group, followed by DQB1*03 (39.2%) and DQB1*04 (25.8%). We found that DRB1*01 was more common in HIV-negative than in HIV-positive individuals and that those who expressed DRB1*08 had lower median viral loads. We demonstrate that the frequencies of certain HLA class II alleles in this Botswana population differ substantially from those in North American populations, including African-Americans. Common allele groups within Botswana cover large percentages of other African populations and could be targeted in regional vaccine designs.