Brachytelephalangic chondrodysplasia punctata in an extremely premature infant

We report on 3 sibs (2 males and one female) with sensorineural deafness. The presence of ovarian dysgenesis in the girl suggested a diagnosis of Perrault syndrome. In addition our patients have a sensory polyneuropathy and amelogenesis imperfecta. Two of the patients have mild mental retardation, fine choreatic movements, and dyspraxia. It is discussed whether these findings are part of a separate clinical entity or should be included within the spectrum of the Perrault syndrome. © 1994 Wiley-Liss, Inc.     

Comparative immunohistochemical study of four monoclonal antibodies directed against ovarian carcinoma-associated antigens

The monoclonal antibodies OC 125, OV-TL 3, MOv 18, and OV-TL 23, which are directed against distinct ovarian carcinoma-associated antigens, are assessed in the present study for their diagnostic value. The expression of the antigens defined by these was studied in serial sections from 80 ovarian carcinomas and 103 nonovarian carcinomas obtained from 183 patients, using the immunoperoxidase technique. Immunoelectron microscopy demonstrated that the antigens were all localized on the tumor cell membrane. OC 125, OV-TL 3, and MOv 18 reacted positively with approximately 90% of the ovarian carcinoma samples (n = 80), whereas OV-TL 23 stained 76% of these samples. OC 125, OV-TL 3, and MOv 18 were also reactive with a majority of carcinomas derived from the cervix, endometrium and fallopian tube, while OV-TL 23 reactivity was primarily restricted to ovarian carcinomas. OC 125 and OV-TL 3 reacted respectively with 11% and 14% of the nongynecologic carcinomas tested (n = 64). Positive cases included breast, colon, and lung carcinomas. The antibodies MOv 18 and OV-TL 23 were found less reactive with nongynecologic carcinomas.     

High CA-125 concentrations in peritoneal fluid of normal cyclic women with various infertility-related factors as demonstrated with two-step immunoradiometric assay

OBJECTIVE: To determine CA-125 concentrations and total amounts in peritoneal fluid (PF) of women with various infertility-related factors throughout the menstrual cycle. DESIGN: Peritoneal fluid was obtained at laparoscopy. CA-125 was determined using the assessed two-step immunoradiometric assay (IRMA) which, in contrast to the one-step IRMA, gives valid results. SETTING: University Hospital Nijmegen, Nijmegen, The Netherlands. PATIENTS: One hundred six infertile women with a regular and ovulatory cycle were included. INTERVENTIONS: None. MAIN OUTCOME MEASURE(S): The mean PF CA-125 concentration and total amount were significantly lower during the luteal phase as compared with other phases of the menstrual cycle. No correlation was found with the presence or absence of endometriosis, adhesions, a male and/or cervical mucus infertility factor, and with patent or closed fallopian tubes. RESULTS: Peritoneal fluid CA-125 concentrations varied from 630 to 12,000 arbitrary units/mL (mean +/- SD = 3,437 +/- 2,286). Total PF CA-125 amounts (concentration x PF volume) varied from 1,760 to 13,300 arbitrary units (mean +/- SD = 30,219 +/- 26,841). CONCLUSIONS: CA-125 secretion into the abdominal cavity varies during the menstrual cycle. Retrograde menstruation is not the main source of CA-125 in PF.     

Undiagnosed obstructive sleep apnea syndrome in children with syndromal craniofacial synostosis

Children with syndromal craniofacial synostosis have a high risk for obstructive sleep apnea syndrome. Early diagnosis and treatment can relieve symptoms and morbidity. Little is known about the development and natural history of obstructive sleep apnea syndrome through life. The aim of this study was to investigate our experience of clinical history and treatment modalities concerning obstructive sleep apnea syndrome from birth until the current age in children with syndromal craniofacial synostosis. Children with one of the three syndromal craniofacial synostoses (Apert, Crouzon, or Pfeiffer) born between 1984 and 2001 were evaluated. The medical history and symptoms of obstructive sleep apnea syndrome were assessed by retrospective analysis of the medical records. The present and past complaints were explored by means of a questionnaire. Retrospective analysis of the medical records showed a suspicion for obstructive sleep apnea syndrome in 26% of the children compared with 53% in the questionnaire. The severity and presentation of obstructive sleep apnea syndrome were not related to the age of the child. Obstructive sleep apnea syndrome symptoms occurred in almost half of the children during colds. Several symptoms were significantly more common in children with a high suspicion for obstructive sleep apnea syndrome. Treatment modalities consisted of adenotonsillectomies, continuous positive airway pressure, and Le Fort III surgery. Use of a standard questionnaire showed that the suspicion for obstructive sleep apnea syndrome in children with syndromal craniofacial synostosis is much higher than reported in the medical records. Regular screening for obstructive sleep apnea syndrome with a standard questionnaire could be of additional value for the detection of obstructive sleep apnea syndrome in children with syndromal craniofacial synostosis.     

Evaluation of a new device for home cardiorespiratory recording in children

OBJECTIVE: To evaluate the feasibility of using a new home cardiorespiratory recording device (HCRD) in children. DESIGN: Cross-sectional study. PATIENTS: Consecutive children scheduled for adenotonsillectomy to treat habitual snoring and/or apneas at otorhinolaryngology clinics in 2 academic and 7 general hospitals. INTERVENTION: Single-night unattended home cardiorespiratory recording prior to adenotonsillectomy using the HCRD. MAIN OUTCOME MEASURES: Number of technically acceptable recordings and successful recordings with artifact-free signals (respiration, saturation, and nasal flow) present for sufficient duration to allow scoring of the polysomnogram and to make a diagnosis. RESULTS: Of 53 eligible children, 24 participated in the study. The main reason for nonparticipation was refusal of caregivers (n = 16). Mean (SD) age of participants was 4.2 (1.6) years; median Brouillette obstructive sleep apnea score was 2.54. Technically acceptable recordings were obtained in 18 children (75%). Only 7 recordings (29%) were classified as successful. The poorest signal quality was obtained from the nasal cannula. CONCLUSION: Based on strict scoring criteria in this study, the results of single-night unattended recordings at home with the HCRD fell short of expectations.