A report of pregnancy following ICSI in one of two sisters with familiar primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is a disorder of structure and function of motor ciliary and dyskinetic activity of ciliary in the fallopian tubes of affected women and could lead to infertility in some cases. In vitro fertilisation (IVF) is a choice of treatment in infertile women with PCD, which could conquer the tubal dysfunction. In this case study, we report a PCD affected woman with infertility who was treated by IVF and pregnancy was achieved but it failed due to the spontaneous abortion. We also performed whole-exome sequencing for this case and her PCD-affected sister, which did not reveal any genetic abnormality related to the PCD or infertility.     

The phenotype of human STK4 deficiency

We describe a novel clinical phenotype associating T- and B-cell lymphopenia, intermittent neutropenia, and atrial septal defects in 3 members of a consanguineous kindred. Their clinical histories included recurrent bacterial infections, viral infections, mucocutaneous candidiasis, cutaneous warts, and skin abscesses. Homozygosity mapping and candidate gene sequencing revealed a homozygous premature termination mutation in the gene STK4 (serine threonine kinase 4, formerly having the symbol MST1). STK4 is the human ortholog of Drosophila Hippo, the central constituent of a highly conserved pathway controlling cell growth and apoptosis. STK4-deficient lymphocytes and neutrophils exhibit enhanced loss of mitochondrial membrane potential and increased susceptibility to apoptosis. STK4 deficiency is a novel human primary immunodeficiency syndrome.     

The effect of a church-based breast cancer screening education program on mammography rates among African-American women

This study examines the effectiveness of breast cancer screening education programs on mammography rates among African-American women 40 years of age and over. We conducted two types of educational programs in community settings, primarily in African-American churches. Three-month follow-up interviews were used to determine whether women who participated in programming were more likely to get a mammogram if they had not had a mammogram in the last year. Our results demonstrate that the educational programs significantly increased the likelihood of getting a mammogram when compared to a control group that received no educational programming. Further, we found that the programs were effective for motivating breast cancer screening in housing projects as well as in the churches, and that the effectiveness of the programs remained even when we controlled for socioeconomic status, depression, and age.     

The vertebral artery: developmental pathology

The vertebral artery (VA), whose embryogenesis is unique, different from that of any other vessel, is characterised by a great variety of malformations and anomalies. Some of the formers are truly pathological (that is symptomatic); the latter are just either anatomic or angiographic by chance findings. All of them should be kept in mind by the surgeon approaching the deep cervical and cranio-spinal regions, as well as by the interventional radiologist. Width and length anomalies of the VA, tortuosity and kinking, course anomalies, duplication and fenestration, persistence of primitive arteries, anomalies of collateral branches are discussed in the light of a literature review. Other pathologies of the cervical VA (spontaneous aneurysms and arteriovenous fistulae) associated exclusively with genetic diseases as neurofibromatosis type 1 (NF1) and fibro-muscular dysplasia (FMD) are also mentioned.     

Racial differences in the diagnosis of dementia and in its effects on the use and costs of health care services

OBJECTIVE: This study examined differences in the prevalence of dementia among Medicare beneficiaries by race and gender as well as racial differences in the effects of dementia on the use and costs of health care services. METHODS: Data from a 5 percent random sample of Medicare beneficiaries in the state of Tennessee who filed claims between 1991 and 1993 (N=33,680) were analyzed. Dementia was assessed on the basis of ICD-9 codes in the billing records of the Health Care Financing Administration (HCFA), along with information on gender, race, comorbid psychiatric conditions, use of health services, and the actual amounts paid by HCFA. Patients with dementia related to Alzheimer's disease were excluded. RESULTS: Diagnoses of dementia were significantly more prevalent among African-American beneficiaries than among white beneficiaries (5 percent compared with 3.9 percent). Persons with dementia had higher rates of health service use, particularly for inpatient care, and African-American persons with dementia had the highest levels of service use. Health care costs were also significantly higher for African Americans with a diagnosis of dementia. Among patients of either race, costs were substantially higher among those with comorbid psychiatric conditions. CONCLUSIONS: Racial differences in the prevalence of dementia are clearly evident. Race also plays a role in the effects of dementia on the use and costs of health services, with higher rates of expensive inpatient care among African Americans. Racial differences in both the prevalence and costs of dementia produce a considerable burden on the health care system. Addressing racial disparities in the prevalence of dementia would result in substantial cost savings.     

Characterization of 11 New Cases of Leukocyte Adhesion Deficiency Type 1 with Seven Novel Mutations in the ITGB2 Gene

Background

Leukocyte adhesion deficiency type 1 (LAD I) is an autosomal recessive disorder caused by mutations in the ITGB2 gene, encoding the β2 integrin family. Severe recurrent infections, impaired wound healing, and periodontal diseases are the main features of disease.

Methods

In order to investigate clinical and molecular manifestations of new LAD I cases, 11 patients diagnosed in one center during 7 years were studied. Patients were screened for the ITGB2 gene mutations, using polymerase chain reaction, followed by single-strand conformation polymorphism and sequencing.

Results

The most common first presenting feature of the patients was omphalitis. The mean age of cord separation was 19.9?±?1 days. The most common clinical manifestations of the patients during the follow-up period included omphalitis, skin ulcers with poor healing, sepsis, and otitis media. During the follow-up, eight patients died. Eight homozygous changes, including seven novel mutations, were detected: two splicing (IVS4?6C>A, IVS7+1G>A), three missense (Asp128Tyr, Ala239Thr, and Gly716Ala), and three frameshift deletions (Asn282fsX41, Tyr382fsX9, and Lys636fsX22).

Conclusion

Our results indicate that different mutations underlie the development of LAD I. Definitive molecular diagnosis is valuable for genetic counseling and prenatal diagnosis. Regarding clinical presentations, it seems that omphalitis is the most consistent finding seen in LAD I infants.     

Predictors of breast cancer screening in a panel study of African American women.

PURPOSE: This study examines the predictors of breast cancer screening participation in a panel study of African American women over age 40. We examine the effect of depression, age, beliefs and concerns about breast cancer and its risk, communication with social networks regarding screening, marital status, participation in religious organizations, breast cancer family history, and participation in a breast cancer education program. METHODS: Participants were recruited from 30 African American churches, two low-income housing projects, and from a health fair at a historically African American University (N = 364). Participants were interviewed upon recruitment, and three months later. Multinomial logistic regression models are estimated to assess the relative impact of covariates on the odds of getting a mammogram while controlling for other factors. We also assess predicted probabilities of screening at specific levels of covariates. RESULTS: We find that age, marriage, an educational intervention, talking with friends, and believing that early detection can lead to cure had a positive impact on getting a mammogram between T1 and T2. In contrast, depression significantly reduces the odds of getting a mammogram. Family histories of breast cancer and church participation have no effect on rates of mammography net of other factors.     

Race, gender, and health care service utilization and costs among Medicare elderly with psychiatric diagnoses

OBJECTIVE. To investigate race and gender differences in health care service utilization and costs among the Medicare elderly with psychiatric diagnoses. METHODS. The authors employ a 5% sample of Medicare beneficiaries from Tennessee (N = 33,680), and among those with a psychiatric diagnosis (n = 5,339), they examine health care service utilization and costs by race and gender. RESULTS. African Americans had significantly higher rates of diagnosis for dementia, organic psychosis, and schizophrenia, whereas Whites had significantly higher rates for mood and anxiety disorders. White and African American men have higher rates of utilization of emergency and inpatient services and lower rates of outpatient utilization compared to White women and African American women. African American men have significantly higher health care costs. DISCUSSION. The findings suggest that race and gender interact to influence service utilization and preventive care, thereby driving up costs of care, for elderly persons with psychiatric diagnoses.     

The clinical and laboratory survey of Iranian patients with hyper-IgE syndrome

In order to determine the clinical and laboratory findings of Iranian patients with presumed hyper-immunoglobulin E syndrome (HIES), the medical records of 22 patients from 21 unrelated families, who had been registered in the Iranian Primary Immunodeficiency Registry, were observed. The median age of patients at the time of first symptom and at the time of diagnosis was 1 month and 52.5 months, respectively, with a median diagnosis delay of 70 months. 13 families had consanguineous marriages. IgE level was higher than 2000 IU/ml in all patients, ranging from >2000 to 80,000 IU/ml. The most commonly occurring manifestations were: eczema and dermatitis, pneumonia, upper respiratory tract infections, cutaneous abscesses, diarrhoea, deep abscesses, and otitis media. Other less frequent manifestations were: mucocutaneous candidiasis, sinusitis, cutaneous ulcers, Molluscum contagiosum, herpetic keratitis, onychomycosis, conjunctivitis, septic arthritis, and meningitis. Five patients were complicated by bronchiectasis due to recurrent pneumonia and 5 patients died because of severe infections and malignancy. The HIES is a multisystem disorder that affects especially cutaneous, respiratory, skeletal and the immune system. Although HIES is a rare condition, the recurrent infections should always raise a suspicion, which deserves further evaluation for detecting the syndrome.