Diploid/triploid mosaicism in dysmorphic patients.

Diploid/triploid mosaicism is a dysmorphology syndrome consisting of mental retardation, truncal obesity, body and/or facial asymmetry, growth retardation, hypotonia, a small phallus, malformed low-set ears and micrognathia. In 75% of the cases, the blood karyotype is normal and the diagnosis can only be established after analysis of cultured fibroblasts. This chromosome abnormality may therefore be underdiagnosed. This paper focuses on the identification of mentally retarded and dysmorphic patients with diploid/triploid mosaicism. Detailed clinical description of well-defined patients may help in deciding if a skin biopsy for karyotyping of fibroblasts should be taken. Three new cases are presented, in which DNA marker analysis showed that the extra set of chromosomes in each case was derived from the mother. We present a review of 25 cases described in the literature and we discuss the inclusion of a second polar body into an early diploid embryo as the most likely mechanism.

Lymphangiectasia with persistent Müllerian derivatives: confirmation of autosomal recessive Urioste syndrome.

We report on a sibship with protein-losing enteropathy related to intestinal lymphangiectasia, a peculiar face, and genital anomalies. The parents are distantly related and from Dutch ancestry. The first patient was born with a protein-losing enteropathy, craniofacial anomalies, and renal defects. At 1 year of age, she died of severe complications of the protein-losing enteropathy and respiratory distress. Her brother was a cytogenetically normal male fetus identified by prenatal ultrasound at 19 weeks with similar anomalies. The pregnancy was terminated at 20 weeks. Autopsy showed müllerian duct remnants. These cases seem to confirm the Urioste syndrome [Urioste et al., 1993: Am J Med Genet 47:494-503]. Although it was previously only reported in 46,XY individuals, this report of a consanguineous family with an affected sibship of both sexes suggests it to be an autosomal recessive entity.

X-linked recessive inheritance of radial ray deficiencies in a family with four affected males.

Radial ray deficiencies are frequently associated with additional clinical anomalies and have a heterogeneous aetiology. X-linked forms are extremely rare. We report a family in which four male relatives show bilateral absence of the radius with presence of the thumbs and associated anomalies. The segregation of the phenotype is suggestive for X-linked recessive inheritance. This is confirmed by performing linkage analysis using 24 markers spanning the X chromosome in which a maximum lod score of 1.93 for DXS8067 and DXS1001 is obtained. We defined a critical region of maximal 16.2 cM on the X chromosome with haplotype analysis.

Unexpected life-threatening complications in Kabuki syndrome.

Kabuki syndrome is a rare multiple congenital anomalies/mental retardation syndrome comprising a distinct facial appearance and fetal fingertip pads. We observed two patients with Kabuki syndrome and describe unusual life-threatening complications, including stenosis of the central airways (not previously reported), extrahepatic biliary atresia, and congenital diaphragmatic hernia.

Benign hereditary chorea of early onset maps to chromosome 14q.

Benign hereditary chorea (BHC) is an autosomal dominant disorder characterized by an early-onset nonprogressive chorea. The early onset and the benign course distinguishes BHC from the more common Huntington disease (HD). Previous studies on families with BHC have shown that BHC and HD are not allelic. We studied a large Dutch kindred with BHC and obtained strong evidence for linkage between the disorder and markers on chromosome 14q (maximum LOD score 6.32 at recombination fraction 0). The BHC locus in this family was located between markers D14S49 and D14S1064, a region spanning approximately 20.6 cM that contains several interesting candidate genes involved in the development and/or maintenance of the CNS: glia maturation factor-beta, GTP cyclohydrolase 1 and the survival of motor neurons (SMN)-interacting protein 1. The mapping of the BHC locus to 14q is a first step toward identification of the gene involved, which might, subsequently, shed light on the pathogenesis of this and other choreatic disorders.

Occurrence of nosocomial pneumonia in mechanically ventilated trauma patients: a comparison of sucralfate and ranitidine.

OBJECTIVE: To determine if there is a difference in nosocomial pneumonia frequency rate in mechanically ventilated trauma patients treated with sucralfate vs. ranitidine for stress ulcer prophylaxis. DESIGN: Prospective, randomized trial. SETTING: A 640-bed urban teaching hospital and trauma center. PATIENTS: Ninety-two mechanically ventilated trauma patients. INTERVENTIONS: Thirty-nine patients received sucralfate and 44 patients received intravenous ranitidine for stress ulcer prophylaxis; nine patients were excluded from the study for protocol breaks. MEASUREMENTS AND MAIN RESULTS: The study population was severely injured and critically ill. The Trauma Score averaged 11.3, the Injury Severity Score averaged 27.7, and the Acute Physiology and Chronic Health Evaluation (APACHE) score averaged 18.1. There were no significant differences in demographics, mechanisms of injury, Trauma Score, Injury Severity Score, APACHE score, length of hospital stay, length of surgical intensive care unit stay, or duration of endotracheal intubation between the sucralfate and ranitidine groups. Eleven (13.2%) patients developed nosocomial pneumonia: six (15.4%) of 39 patients in the sucralfate group and five (11.4%) of 44 patients in the ranitidine group; these numbers were not significantly different (chi 2 = 0.0226, p = .8805). There were no episodes of significant upper gastrointestinal bleeding. Six patients died during hospitalization, all secondary to severe head injury and none with pneumonia. CONCLUSIONS: There was no statistically significant difference in pneumonia rate in mechanically ventilated trauma patients receiving stress ulcer prophylaxis with sucralfate vs. ranitidine.

Blunt diaphragmatic rupture diagnosed by laparoscopy: report of a case.

Diagnostic laparoscopy provided a minimally invasive and definitive means of diagnosing right-sided diaphragmatic rupture in this patient. The authors recommend laparoscopy as a diagnostic consideration for the patient with suspected traumatic diaphragmatic rupture who presents a difficult diagnostic challenge.

In vitro preservation of traumatic human skin autografts in a massive degloving injury.

The in vitro preservation of human skin autografts is a valuable technique in the management of severe degloving injuries. The authors describe the storage of traumatically induced human skin autografts involving nearly one third of the total body surface of a patient. These autografts were preserved in tissue-culture medium for 19 days and then transplanted onto the patient's prepared wounds, successfully acting as biologic dressings and permanent grafts. To the authors' knowledge, this is the largest clinical application of skin-storage techniques for the preservation of traumatic human skin autografts that is known to have been reported.

Influence of matching for HLA-DR antigens on skin graft survival.

HLA-DR typing results of 47 skin transplant donor-recipient pairs were analysed. HLA-A, B, and C typing and mixed lymphocyte culture (MLC) testing was also included in this study. Skin transplants exchanged between HLA-A-, B-, and DR-identical, MLC-negative donor-recipient pairs had the longest graft survival (mean survival time, 17 days), whereas skin grafts exchanged between completely nonidentical donor-recipient combinations had the shortest survival (mean survival time, 10 days). Because of the correlation between identity for the DR antigens and the low or nonreactivity in the MLC test, identity for DR will predict a better skin graft survival than nonidentity. It was concluded that the best match between donor and recipient of a graft, using only serological techniques, is one where there is identity for HLA-A, B, and DR.

Matching for HLA antigens of A, B, and DR loci in renal transplantation by Eurotransplant.

79 patients and their respective cadaveric kidney donors were typed for HLA-A, HLA-B, and HLA-DR antigens using frozen stored spleen lymphocytes and fresh peripheral-blood lymphocytes. The kidney-graft survival-rate at 3 to 18 months was highest when donor and recipient shared one or two DR antigens and three or four A and B antigens. The graft-survival rate was significantly higher (87 +/- 6%) at 18 months in these patients than in less well matched patients (48 +/- 9%).