Genetic Information-Seeking Behaviors and Knowledge among Family Members and Patients with Inherited Bone Marrow Failure Syndromes.

Inherited bone marrow failure syndromes (IBMFS) including Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome are rare genetic disorders characterized by hematologic complications and increased risk of cancer. Patients and their families likely experience obstacles in obtaining sufficient health information given their disorders' rarity. To investigate this possibility, we examined information-seeking behaviors and levels of general and disorder-specific genetic knowledge among 315 members of 174 families with an IBMFS, and how information-seeking behaviors and socio-demographic factors may be associated with their genetic knowledge. Cross-sectional survey data indicated that participants were most likely to have ever used the Internet or healthcare providers for genetic information. On average, participants correctly answered 57 % of items assessing general genetic knowledge and 49-59 % of disorder-specific knowledge items. Greater knowledge was associated with greater education and ever experiencing genetic counseling, attending a scientific meeting, and seeking information from the Internet and scientific literature. Among families with Fanconi anemia (whose family support organization has the longest history of providing information), greater disorder-specific genetic knowledge was also associated with seeking information from support groups and other affected families. Results suggest that families with IBMFS have uncertainty regarding genetic aspects of their disorder, and highlight potential channels for delivering educational resources.

Further characterization of Shwachman-Diamond syndrome: psychological functioning and quality of life in adult and young patients.

To assess psychosocial functioning and quality of life in a representative group of adult and young patients with Shwachman-Diamond syndrome (SDS), all patients 3 years old and over included in the Italian SDS Registry were investigated using an ad-hoc questionnaire for information about demography, education, socialization, rehabilitation therapy, and standardized questionnaires [SF-36, Child Behavior Check-List (CBCL)] for quality of life and behavior. Results were compared with those of a Cystic Fibrosis (CF) patient group, matched for age and sex. Eighty-one percent of patients answered. All but one adult patient lived with their parents, 24% had independent income, and 57% had a driver's license. Different levels (from mild to severe) of cognitive impairment were reported by 76% of the adults and by 65% of the young patients. These data are significantly lower than those of the CF group. Both groups present low scores in the emotional and mental health evaluations at SF-36, but SDS patients reported significantly more limitations in physical functioning (PF) and more body pain (BP) experiences. As reported by parents at CBCL, young SDS patients show more "social problems" (in the clinical area 31% SDS vs. 6% CF), "attention deficits disorder" (29% SDS vs. 0%CF), and "somatic complaints" (24% SDS vs. 12% CF). Psychosocial functioning is impaired in the majority of SDS patients, significantly more than in patients affected by CF.

Buffalo hump in HIV patients: surgical management with liposuction.

Although lipohypertrophy has been reported in as many as 41% of patients with HIV, buffalo hump or cervical lipomatosis has been reported in only 1-2% of patients. There is no definitive medical treatment for this disabling condition. Few case series describing the role of liposuction in buffalo lump treatment have been published, with variable short-term and long-term results. We describe our experience in two patients, with a brief review of the literature.

Vertical transmission of the hip rolls due to wearing of TLSO for scoliosis.

Cosmesis is important in the treatment of adolescent patients with idiopathic scoliosis. It has been shown that although bracing reduces the rib hump, it induces several complications. The aim of this study was to describe a new disturbing complication due to wearing a thoracolumbosacral orthosis (TLSO) for adolescent idiopathic scoliosis: the vertical transmission of the hip rolls (trochanteric lipomatosis) in girls and its pathogenetic mechanisms. Trochanteric lipomatosis is common in the female population, particularly after adolescence, and is responsible for the characteristic appearance of the hip rolls. No data have been reported concerning vertical transmission of normal trochanteric lipomatosis with subsequent disturbance of aesthetic appearance while wearing the TLSO. In this prospective study, 300 consecutive adolescent girls who were treated with the TLSO for progressive idiopathic scoliosis were followed and evaluated for development of any vertical transmission of the hip rolls after application of the brace for an average of 2.5 years after termination of the treatment. Almost simultaneously, 290 age-matched, randomly selected adolescent girls served as controls and were examined by two unbiased observers during the school screening program to estimate the prevalence of trochanteric lipomatosis in female adolescents of the same geographic area. In this series, bracing reduced the thoracic scoliosis from 34.4 +/- 5 degrees to 18.5 +/- 6 degrees and the lumbar scoliosis from 29.4 +/- 4 degrees to 16.7 +/- 4 degrees 6 months after initiation of brace wearing. The average prevalence of normal trochanteric lipomatosis in girls in the control group was 26% (range, 12.2-68.4%) for the ages 9-14 years and was increasing with the age and weight. No correlation was found between amount of reduction of scoliosis and prevalence of the complication. Vertical transmission of the hip rolls was observed in 69 (23%) of the girls with scoliosis 6 months after initiation of brace wearing and was positively correlated with the rigidity of the scoliotic curvature (p < 0.05) and the amount of reduction of the curvature (p < 0.05). Seven (8.8%) girls discontinued brace wearing because of psychological distress related to the deformity around the hip rolls, whereas 51 (73%) additional girls underwent suction lipoplasty during or after the termination of the brace wearing, because of persistent and disturbing lipomatosis. Recurrence of significant lipomatosis was observed in 3 (5.8%) of the girls who underwent lipoplasty. Physicians who are involved with treatment of scoliosis with bracing should be aware of this aesthetic complication. Brace wearing should not attempt maximum correction of scoliosis, thus avoiding excessive force on the body, and should be ordered only in patients with immature spines, curves of > 25 degrees, and radiologically justified progression. Suction lipoplasty seems to be a safe method of treatment and should be advised in cases with unaesthetic vertical transmission of the hip rolls.