Biomedical subjects
Publications and source records attributed to C Stoll.
A mentally retarded girl with congenital blepharophimosis, ptosis, abnormal teeth and other features consistent with Ohdo syndrome is reported.
A case of Schinzel-Giedion syndrome with a follow-up of two and a half years is reported. In addition to the classical features of the syndrome, the patient had severe hearing loss with ossicular and cochlear malformations, alacrymia, and progressive neurodegenerative disease.
In 1990, Gorlin et al. [Syndromes of the Head and Neck, New York: Oxford University Press, pp 641-649, 707-708] proposed to lump several syndromes together, including facioauriculovertebral syndrome, hemifacial microsomia, otomandibular dysostosis, Goldenhar syndrome, the first branchial arch anomalies and the first and second branchial arches anomalies. They proposed to use the term oculoauriculovertebral "spectrum." Because there is no agreement on minimal diagnostic criteria the phenotype overlaps many genetic and teratologic syndromes. Most cases are sporadic, but familial instances have also been observed in first-degree relatives. We report on a mother and two of her children who have the oculoauriculovertebral "spectrum." The mother had only auricular anomalies for which she had plastic and reconstructive surgery. Her first child, a girl, had a bilateral cleft lip and palate, a coloboma of upper eyelid, facial asymmetry, and posteriorly angulated ears. This child also had bilateral vesicoureteral reflux. During the second pregnancy fetal ultrasonographic examination performed at 18th week of gestation showed a cleft lip and palate. At the thirty-first week of gestation, club feet, hypoplasia of the left ear, hypoplasia of the left maxillary and mandibular arches, and left microphthalmia were evident. Examination of this fetus confirmed ultrasonographic findings and demonstrated vertebral anomalies. This familial observation confirmed variable expressivity of the oculoauriculovertebral anomaly with isolated microtia (the mother), major malformations (the fetus), and less serious anomalies (the first child) and showed that this condition may be inherited as an autosomal or X-linked dominant condition.
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Walker-Warburg syndrome (WWS) is an autosomal recessive condition characterized by diffuse neurodysplasia, resulting in brain and eye abnormalities. We report on 3 prenatally diagnosed cases of this syndrome born to a consanguineous couple. An ultrasonographic examination showed hydrocephalus at the 27th week of the first pregnancy. Amniocentesis documented a normal male karyotype. The couple opted for termination of the pregnancy but declined an autopsy. Seven months later, hydrocephalus was observed at 20 weeks of the second pregnancy. Termination of pregnancy was performed at the 22nd week. Autopsy of this male fetus showed dilated ventricles, thin cortex, and type II lissencephaly with microscopic evidence of chaotic architecture. Eye examination showed retinal dysplasia. Notwithstanding the lack of demonstrable muscle change, the diagnosis of Walker-Warburg syndrome was made. Ten months later, hydrocephalus was discovered in the third fetus, a female, at 13 weeks of gestation. Termination of pregnancy was performed at 20 weeks. At autopsy, brain, eye, and muscular findings were similar to those of the previous case. In addition, cystic changes and a stenosis of the pyelo-ureteral junction were found in the right kidney. Type II lissencephaly and retinal dysplasia are characteristic of WWS. Muscular dystrophy has been pointed out as an additional abnormality in postnatal cases. By contrast, the lack of demonstrable muscle changes in the fetal period must be emphasized. Those cases illustrate practical problems in the ultrasound and pathologic diagnosis of WWS in the fetal period.
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UNLABELLED: Treatment of severe acute respiratory distress syndrome (ARDS) with extracorporeal membrane oxygenation (ECMO) can be lifesaving but requires maximal use of intensive care resources over prolonged periods of time, resulting in high costs. Little is known about the health-related quality of life (HRQL) in long-term survivors. This case-controlled retrospective study was designed to assess the health-related quality of life in long-term survivors of ARDS and ECMO-therapy. METHODS: 14 long-term survivors of ARDS (APACHE II score = 24, Lung Injury Score = 3.25, median values) treated using ECMO between 1992 and 1995 (median time interval between data collection and discharge from the ICU 16 months) and 14 ARDS-patients conventionally treated during the same period (group I) were identified and completed the SF-36 Health Status Questionnaire (Medical Outcome Trust, Boston, USA). 14 healthy subjects (group II) were drawn at random from a large data base generated to provide normal values for the SF-36 in a German population. All three groups were comparable with respect to sex and age. RESULTS: Long-term survivors of ECMO-therapy reported significant reductions in physical functioning when compared with patients treated by mechanical ventilation alone (group I, -12.5%, p < 0.05) and with healthy controls (group II, -50%, p < 0.05) and showed a higher incidence of chronic physical pain (+5% and +24%, respectively, p < 0.05). There were no differences with regard to the mental health dimensions of the SF-36 (e.g. vitality, mental health index or social functioning) between ECMO-patients and all controls. Nine patients (64.3%) from the ECMO group versus all patients treated conventionally (group I) had full-time employment (p = 0.46, Chi2 test). CONCLUSIONS: The majority of long-term survivors of ECMO-treatment show good physical and social functioning, including a high rate of employment. The more aggressive approach of ECMO-therapy and a possibly more severe underlying disease process may explain impairments in health-related quality of life outcomes after ECMO-treatment. Despite these limitations, long-term survivors of ECMO-therapy are able to reach a highly satisfactory health-related quality of life.
In the last 10 years an increasing number of cases of group A streptococcal toxic shock syndrome have appeared in various clinical settings. The manifestation of this syndrome includes rapidly progressive multiorgan failure and soft-tissue necrosis. This report presents a case of streptococcal toxic shock syndrome caused by Streptococcus pyogenes with severe necrotizing fasciitis of the abdominal wall following hysterectomy. Aggressive surgical intervention with debridement of all necrotic tissue necessitated resection of the complete abdominal wall (skin, subcutaneous tissue, muscle and peritoneum). The abdominal wall defect was covered with free myocutaneous flaps and split-skin grafts. Optimal treatment, including adequate antibiotic therapy and radical surgical intervention, is an indispensable prerequisite of successful outcome.
In several tumour entities the immunohistochemical detection of p53 has proved to be a predictive factor for the survival of the patients. In this study the effector waf1 and the regulator mdm2 responsible for the inactivation of p53 were also determined in 156 tissue samples of primary squamous cell carcinomas in the oral cavity and oropharynx, their lymph node metastases, and the epithelium outside the invasively growing tumour from 107 patients. In this latter epithelium there was a significant correlation between grade of dysplasia and staining for p53 (P<0.01). In the dysplastic epithelium a significant correlation between p53, waf1, and mdm2 was shown (P<0.05). Differences in the immunohistochemical staining between different blocks of the tumour tissue and also between primary tumours and their lymph node metastases were revealed in 11-44% of cases, but there was no correlation with other variables, such as formation of lymph node metastases. In contrast to the conventional tumour grading and staging, no influence of any of the variables determined on survival or recurrence-free survival could be detected. It seems that p53 and associated factors are important in the early stages of cancerogenesis but not in further tumour progression and metastatic spread.
Carpal tunnel syndrome is common in adults and is usually sporadic and idiopathic. When carpal tunnel syndrome is inherited, it is often the manifestation of a systemic disease. We report carpal tunnel syndrome in an otherwise healthy woman aged 35 years. Family history reveals that her daughter, her sister and a sister's daughter, an aunt, a first cousin, her father and the paternal grandmother are also affected. The age of onset of the disease in this family was between 9 and 52 years of age. The family in this paper demonstrates an interesting pattern of inheritance with earlier onset of symptoms in subsequent generations, suggestive of anticipation.
OBJECTIVES: Despite considerable progress in intensive care management of the acute respiratory distress syndrome (ARDS), little is known about health-related quality of life in long-term survivors. In addition, intensive care treatment can be extremely stressful, and many survivors of ARDS report adverse experiences such as respiratory distress, anxiety, or pain during intensive care unit (ICU) treatment. This study was performed to assess health-related quality of life in survivors of ARDS and to test the hypothesis that adverse experiences during ICU treatment result in posttraumatic stress disorder (PTSD) and negative effects on health-related quality of life. DESIGN: Retrospective, cohort, case-controlled analyses. SETTING: A 12-bed multidisciplinary ICU of a tertiary care university hospital, capable of providing extracorporeal life support for adults with severe ARDS. PATIENTS: We studied 80 patients who were admitted to our hospital from 1985 to 1995 and who survived an episode of ARDS. ARDS was defined according to the criteria of the American-European Consensus Conference on ARDS. INTERVENTIONS: Health-related quality of life was measured using the Health Status Questionnaire of the self-administered Medical Outcomes Study Short Form Survey that consists of 36 questions (SF-36) and the German version of the Post Traumatic Stress Syndrome 10-Questions Inventory (PTSS-10), a self-report scale for the diagnosis of posttraumatic stress disorder based on the Diagnostic and Statistical Manual (Third Edition) criteria (American Psychiatric Association). The number of adverse experiences (anxiety, respiratory distress, pain, and nightmares) during intensive care was evaluated by means of a structured questionnaire. For each patient with ARDS, three age- and gender-comparable controls were randomly selected from databases providing normal values for the SF-36 and PTSS-10 scores in populations at risk for posttraumatic stress disorder. MEASUREMENTS AND MAIN RESULTS: Survivors of ARDS showed statistically significant impairments in all eight health dimensions of the SF-36 when compared with normal controls (median reduction 21.3%, p < .006) with maximal impairments in physical function (median reduction 28.9%, p = .000) and a 38% higher frequency of chronic pain (p = .0001). Three of 34 patients reporting none, or one, adverse experience had evidence of posttraumatic stress disorder vs. 19 of 46 patients remembering multiple traumatic episodes (p = .007). Patients reporting multiple adverse experiences described the lowest health-related quality of life, with maximal impairments in psychosocial functioning (p < .005) and only small limitations in physical function. CONCLUSIONS: Long-term survivors of ARDS describe a good overall health-related quality of life. Major impairments in mental health domains of health-related quality of life are associated with the development of posttraumatic stress disorder and are a possible result of traumatic experiences during ICU therapy.
OBJECTIVES: To provide data on oligohydramnios associated with congenital anomalies in 225,669 consecutive pregnancies. MATERIAL AND METHODS: The malformations in this study came from births of known outcome recorded in our registry of congenital malformations. Routine ultrasonographic examination was performed. Diagnosis of oligohydramnios was made ultrasonographically. For each case, a control was chosen. RESULTS: The prevalence of this association was 0.99 per thousand (224 cases). A case-control study allowed the examination of genetic and environmental factors for the origin of oligohydramnios associated with congenital malformations. Diagnosis of oligohydramnios associated with congenital malformations was made prenatally in 32.6% of the cases; 12.0% of the infants were stillborn. Fifty-nine percent of the cases had more than one malformation, 13.8% had a chromosomal aberration, and 27.6% had multiple malformations that do not constitute a syndrome. The more frequent malformations associated with oligohydramnios were urinary, musculoskeletal, digestive and cardiac. There was increased parental consanguinity. The frequency of oligohydramnios and congenital anomalies among first-degree relatives was 4.5% and first-degree relatives had more malformations than controls (8.0 vs. 3.1%, p < 0.05). Threatened abortions and diabetes mellitus were significantly more frequent among mothers of the children with congenital malformations associated with oligohydramnios than among the controls. CONCLUSIONS: Our study demonstrated that careful fetal examination has to be performed when oligohydramnios is diagnosed as congenital malformations are often associated with oligohydramnios. We recommend the use of fetal chromosome analysis and careful ultrasonographic examination in every pregnancy complicated by oligohydramnios.
Congenital absence of third molars is common. However absence of the other permanent teeth is relatively rare. Absence of teeth may be isolated or associated to other features. We had the opportunity to examine a girl with oligodontia associated to microcephaly, to facial dysmorphia and to short stature.
Hereditary lymphedema can appear at birth or later up to adulthood. It may be seen in connection with diverse symptoms forming various syndromes. The authors report a family with hereditary lymphedema, brachydactyly, syndactyly and tachycardia. Lymphedema and tachycardia could appear together by chance. However this combination could also be a syndrome.
In many countries the introduction of screening programs based on maternal serum has reduced the number of Down syndrome. In France routine maternal serum screening was not available whereas ultrasound scanning during pregnancy is routine practice in private offices and in hospitals using high-resolution real-time scanners and there are no legal upper limits on gestational age at termination of pregnancy for fetal abnormality. The objective of this study was to determine the impact of routine fetal ultrasonographic screening on birth prevalence of Down syndrome in non aged mothers. Total prevalence of Down syndrome during 1989 to 1996 was stable 1.43 per 1,000 with no upward or downward trend. The total number of liveborn Down syndrome during this period was higher than previously due to a changing pattern of risk in relation to maternal age. All women who delivered an infant with Down syndrome had had routine ultrasonography, including 88% in the second trimester. Out of the 154 Down syndrome fetuses examined, 38 had been found to have an anomaly. This low sensitivity (24.7%) is not the result of the quality of the ultrasound equipment. It may be explained by the inadequate routine, first level ultrasonographic examination. This study demonstrated that other screening methods than routine fetal ultrasonographic examination are needed in our region.
The genetics and the epidemiology of Down syndrome (DS) was studied in the area which is covered by our registry of congenital malformations. For each of the 398 new DS cases which were ascertained during the period 1979 to 1996 more than 50 factors were studied and compared to those from control infants. The prevalence of DS was 1.66 per 1000; 2.2% of the DS cases were stillbirths and 29.4% were induced abortions. Karyotypes were obtained in 391 cases of which all but 23 were 47,+21;9 were mosaics (2.3%), and 14 had translocations (3.6%). Interchromosomal effect was a question in 7 cases. The most common types of associated malformations were cardiac anomalies (46.2%) and intestinal atresias (6.0%). Seasonality or time/space clusters were not observed in spite of the Chernobyl nuclear accident. No paternal age effect was demonstrated; 5.3% of the mothers of DS had 2 previous spontaneous abortions (controls 3.7% p < 0.05). At birth, the DS infants measured and weighted less and their head circumference was lower than in control infants. Weight of placenta was also lower than in control infants. In this material there were 4.5% of consanguineous marriages (P < 0.01). The pregnancies of the DS children were more often complicated by threatened abortions than in the controls, 3.2% of the mothers of the DS children were diabetic controls (1.7%), although the difference was not statistically significant. For all other factors studied no statistically significant difference with respect to controls could be demonstrated.
In 1977 Rautenstrauch and Snigula reported on two sisters with a previously undescribed, progeria-like syndrome. Two years later Wiedemann described two unrelated males with the same condition. Since than only a few published cases appeared in the literature. We had the opportunity to study a boy affected by this extremely rare condition. This boy was born after intrauterine growth retardation. At birth two natal teeth were present. OFC was normal despite apparent macrocephaly. During infancy a progeroid appearance was noted with sparse hair, prominent scalp veins, greatly widened anterior fontanelles, malar hypoplasia, and generalized lipoatrophy. The face was triangular with a small maxilla and a protuding chin, the eyes were low-set, the eyebrows and eyelashes were scanty. At the age of 3.5 years there was striking general deficiency of subcutaneous fatty tissue apart from accumulation of adipose tissue on the buttocks and flanks, growth was retarded, mental development was at the low borderline of normal. Cholesterolemia was at the upper range of normal, there was an increase of triglycerides: 3.31 mmol/L (Normal < 1 mmol/L). Other progeroid syndromes such as Hutchinson-Guilford, Berardinelli-Seip, De Barsy, leprechaunism, Cockayne and Hallerman-Streiff could be excluded as well as the CDG syndrome. This condition is most probably inherited as an autosomal recessive trait.
Dyssegmental dysplasia is a rare micromelic dwarfism with characteristic clinical and radiological features. In skeletal dysplasias with severe micromelia prenatal detection of affected fetuses is possible using ultrasonography. However, prenatal diagnosis is usually performed after the occurrence of a previous case in the family. In this case dyssegmental dysplasia was detected prenatally in the first child of unaffected related (first cousins) parents. Fetal ultrasonographic examination in the 33rd week of gestation revealed a normal biparietal diameter of 94 mm and pronounced shortening of the extremities with femurs of 19 mm. The femurs were bowed. The spine showed severe malsegmentation. At radiological examination the long bones showed a dumbbell configuration especially in the longer extremities. The spine showed severe malsegmentations including coronal and sagittal clefting and multiple outsize vertebrae. The pelvis had very narrow sacrosciatic notches and rounded iliac wings. This case supports the autosomal recessive inheritance and demonstrates the possibility of prenatal diagnosis in non familial cases in this type of micromelic dwarfism.