Ehlers-Danlos syndrome type VI: clinical manifestations of collagen lysyl hydroxylase deficiency

We reviewed the clinical findings in 10 patients with lysyl hydroxylase deficiency (Ehlers-Danlos syndrome type VI) and report here the range of clinical severity in these patients. The distinctive feature common to all patients was muscle hypotonia with joint laxity in the newborn period, and moderate to severe kyphoscoliosis either was present or developed in almost all patients. Most patients also had some degree of skin abnormality observed in other types of Ehlers-Danlos syndrome: bruisability, abnormal scarring, and soft, distensible skin. These patients also are at risk for potentially catastrophic arterial rupture.     

Neonatal vocal cord paralysis following extracorporeal membrane oxygenation

Five cases of unilateral vocal cord paralysis/paresis were diagnosed following extracorporeal membrane oxygenation for newborn respiratory failure. All were right sided and transient in nature. None of the five patients had other findings commonly associated with vocal cord palsy. The extracorporeal membrane oxygenation procedure requires surgical dissection in the carotid sheath on the right side of the neck, an area immediately adjacent to both the vagus and recurrent laryngeal nerve. It is speculated that vocal cord paralysis in these infants was acquired as a result of the extracorporeal membrane oxygenation cannulation. Although the vocal cord paralysis resolved in all cases, two patients had difficult courses after extracorporeal membrane oxygenation. Therefore, laryngoscopic examination should be considered for patients after extracorporeal membrane oxygenation.     

Do we need in-patient units for child and adolescent psychiatry? Data on administrative incidence from 1980-1984 from Vorarlberg/Austria

The question of the necessity of in-patient facilities of the area of (child and) adolescent neuropsychiatry is to be discussed further. The extremely optimistic views on this question of approximately 20 years ago cannot be maintained for the examined area and the examination time. In the LNKH Valduna/Vorarlberg, an establishment that was intended exclusively for adults until 1987, from 1980-1984 (evaluated in detail) and from 1984-1987 a further 60 minors were admitted. The exact evaluation shows that the conspicuousnesses of behaviour of a main group was so clear each time that it could not be treated elsewhere and certainly not in outpatient facilities. In the examined group the amount of patients with behaviour and socialization disorders outweighed by far the psychoses, also a high percentage of patients was multi morbid and/or had multiple handicaps. The resulting conclusion seems to us to be the necessity of setting-up a specific in-patients treatment unit for this group of patients with sufficient infrastructure.     

Transplantability of human head and neck squamous cell carcinomas in athymic nude mice

Tumor material from 91 patients with squamous cell carcinoma of the head and neck was transplanted subcutaneously in athymic nude mice. In the first (man to mouse) passage, the calculated mean probability of tumor take in a single mouse was 11%. The probability of growth in the first passage was significantly better for moderately and poorly differentiated tumors than for well-differentiated tumors. Also, the implantation of lymph node material resulted in a significantly better tumor take rate than material taken from a primary tumor. Transplantability was not dependent on the following characteristics: localization, T or N stage of the tumor, or the sex of the patients. Once growth was established, all variables studied had no influence on the probability of growth in the subsequent mouse passages. A relationship between tumor growth in nude mice and patient prognosis could not be found. When transplanting head and neck squamous cell carcinoma in nude mice, it has to be recognized that some tumor characteristics will influence the success of tumor growth.     

Risk of infectious complications in well-appearing children with transient neutropenia

To determine whether well-appearing children found incidentally to be neutropenic are at risk for an infectious complication, 44 consecutive months of hematology laboratory records were reviewed. One hundred nineteen patients had medical record documentation regarding clinical course, serial white blood cell counts, and the absence of serious infections, chronic illnesses, or a family history known to be associated with neutropenia. The median duration of documented neutropenia was 13 days (range, 1 to 491 days). Infectious complications occurred in 4 of the 36 patients who had neutropenia for more than 30 days (2 with stomatitis, 1 with cellulitis, and 1 with pneumonia) but in none with shorter durations of neutropenia. There were no significant associations between the development of an infectious complication and either the initial absolute neutrophil count or the lowest documented absolute neutrophil count, nor was there a correlation between the initial absolute neutrophil count and the duration of neutropenia. These data indicate that infectious complications occur in otherwise well children with unexplained neutropenia that persists, but these infections are infrequent and usually are superficial.     

Usher syndrome: clinical findings and gene localization studies

The issue of genetic heterogeneity is a critical problem in the localization of the gene(s) for Usher syndrome. Based on the data obtained on families studied to date, the differences between type I and type II Usher syndrome appear quite distinct with regard to auditory and vestibular function. Although the majority of families can be confidently diagnosed as typical type I or type II, clinical investigations revealed four families with findings that did not fit into either of the two more common subtypes. These findings emphasize the critical importance of an in-depth clinical analysis concomitant with the linkage investigation to assure accurate subtyping of Usher syndrome. Based on an analysis of only those families with definite type I or type II Usher syndrome, approximately 17% of the genome can be excluded as a potential site of the gene for type I, and 14% can be excluded as the site for the type II gene. This study will continue until the Usher gene(s) is successfully localized.     

The effect of social learning intervention on metabolic control of insulin-dependent diabetes mellitus in adolescents

This paper reports the results of an experimental study modeled after a study conducted by Kaplan et al. The hypothesis tested was: Adolescents who receive a social learning intervention (SLI) will show greater improvement in metabolic control of their diabetes than will adolescents who receive only traditional diabetes instruction. Thirty-four adolescents between the ages of 12 and 16 who attended a midwestern camp were randomly divided into two groups. Both groups attended a daily 1-hour teaching session about diabetes. Later each day, the experimental group received an SLI consisting of role modeling to help the subjects circumvent peer pressure. To determine metabolic control, HbA1 values were determined before and 3 1/2 months after the intervention. The control group showed no significant difference in HbA1 values, while the experimental group showed a decrease in metabolic control.