Medical Blog - Part 173

Three Successive Generations DISCUSSION

The most common type of ectodermal dysplasia is the anhidrotic/hypohidrotic type, known as Christ-Siemens-Touraine syndrome, in which there is a triad of dentition anomalies, partial or complete absence of the sweat glands, and hypotrichosis. First described by Thurman, the typical facies is characterized by frontal bossing, sparse, hypopig-mented hair, malar/midfacial hypoplasia, thick everted lips, a flattened (saddle) nasal bridge and prominent low-set ears. The skin is often finely wrinkled and hyperpigmented around the eyes, and the teeth are often peg-shaped and partially absent.

Three Successive Generations

INTRODUCTION

Ectodermal dysplasias are a large group of disorders made up of over 150 different conditions characterized by common anomalies of at least two elements of the ectoderm and its appendages—namely, the skin, teeth, hair, nails and sweat glands. Most are classified as either the anhidrotic/hypohidrotic type or the hidrotic type. These disorders, although rare, may cause death by malignant hyperthermia as a consequence of inadequate sweating. These patients also frequently have chronic dental problems with early loss of teeth and recurrent lung, ear and nose infections secondary to a defect in mucous membrane function. Anhidrotic/hypohidrotic ectodermal dysplasia (AED) is most commonly X-linked recessive, although rare cases of autosomal recessive and autosomal dominant inheritance have been identified. We present here a case of three successive generations of females with autosomal dominant AED presenting with alopecia (Canadian Cloud Nine Regrowth+ though men make up the majority of people who suffer from androgenic alopecia), anhidrosis, hypodontia and malar hypoplasia.

Healthcare Professionals' Perceptions DISCUSSION

Most of the findings from our focus groups on living kidney transplantation were consistent with those of the research on cadaveric transplantation.  Analysis of the focus group transcripts revealed the following perceptions of barriers to living kidney donation in the African-American population: 1) pre-existing medical conditions, 2) financial concerns, 3) reluctance to ask family members and friends, 4) distrust of the medical community, 5) fear of surgery, and 6) lack of awareness about living donor kidney transplantation. Implications of these results are addressed below.

Healthcare Professionals' Perceptions

Racial disparities continue to be prevalent throughout many areas of healthcare, including kidney transplantation. The Organ Procurement and Transplantation Network reported that African Americans comprised 68.3% of the waiting list in South Carolina from 1988 to May 2005 and received 49.2% of renal transplants during the same period. Also during that period in South Carolina, only 20.8% of the kidney transplants performed were from living donors, of which only about one-third (33.3%) were from African Americans.

Demographics

The focus group participants were an interdisciplinary, multicultural group of transplant healthcare professionals. A total of 18 individuals participated in three focus groups, with each group including 5-7 people. Participants included eight physicians (four nephrologists, three transplant surgeons and one transplant surgery fellow), six transplant coordinators, one nurse practitioner, two pharmacists and one data coordinator. Each group was similarly balanced in representation of different disciplines. Twelve of the participants were non-Hispanic Caucasian, four Asian, one African-American and one Hispanic (Table 2).

Study Participants

We conducted three focus groups with an interdisciplinary, multicultural group of healthcare professionals at MUSC to determine their perceptions about barriers to living organ donation. Participants were recruited from among transplant center staff, who were informed by memo and word of mouth that three focus groups would be held at different times and dates over the course of two months. The memos stated that focus groups would be held to discuss the living kidney donation program and that participation was voluntary. Participants were not told that we were particularly interested in surveying their perceptions of the barriers to living kidney transplantation among African Americans.

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