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Biomedical subjects

C Stoll

Publications and source records attributed to C Stoll.

At least 307 records · Page 17Linked to original sources
PubMedDate not supplied

Long-term follow-up of a girl with oro-facio-digital syndrome type I due to a mutation in the OFD 1 gene.

In 1954, Papillon-Léage and Psaume described a dominant, X-linked condition which they named oro-facio-digital (OFD). This condition was split into at least nine syndromes, the more common being OFD I. We report a girl with OFD I syndrome followed up for 23 years. Clinical examination showed cleft palate, median cleft lip, multiple oral frenulae, lobulated tongue and brachydactyly. There was no mental retardation. At 19 years of age, renal insufficiency appeared. A renal transplantation was performed. The parents were unaffected. An older brother had hydrocephaly, bilateral optic atrophy and mental retardation. A younger sister is unaffected. A mutation, an insertion of a G leading to a frameshift in the OFD 1 gene, was identified in this patient.

Abnormalities, Multiple↗
PubMedDate not supplied

Limb reduction defects in the first generation and deafness in the second generation of intrauterine exposed fetuses to diethylstilbestrol.

Maternal treatment with diethylstilbestrol (DES) during pregnancy can produce vaginal adenocarcinoma and other abnormalities of the vagina in her daughters when they reach adolescence or adulthood, miscarriages and absence of full term infants. Concerning malformations in newborns whose mothers were treated with DES, clitoromegaly and malformations of the uterus were reported in females and genital lesions in males. However, the frequencies of major congenital anomalies were not greater than expected. We report three cases of limb reduction defects (LRD) in the first generation of children whose mothers were treated with DES during pregnancy, and two children (one male, one female) with deafness in the second generation after intrauterine exposure to DES. The LRD were not associated with other congenital anomalies. The malformed children with LRD were born between 1965 and 1973. The deafness was also isolated. The two mothers who have no hearing problems and who are healthy were exposed in utero to DES in 1963 and 1965, respectively. Their children were born in 1989 and 1994, respectively. In conclusion, the association of LRD and hearing loss with intrauterine exposure to DES could be coincidental. However, some hypothesis may explain these associations. Congenital hearing loss in the second generation may suggest a transgenerational effect.

Adult↗
PubMedDate not supplied

The relationship between cognitive performance and employment and health status in long-term survivors of the acute respiratory distress syndrome: results of an exploratory study.

Survivors of acute respiratory distress syndrome (ARDS) are at risk for long-lasting cognitive decline due to hypoxemia, sepsis and/or psychological sequelae associated with aggressive supportive care in the intensive care unit (ICU). We conducted an exploratory study to assess cognitive performance in long-term survivors of ARDS and to investigate how cognitive functioning is related to employment status and health-related quality of life (HRQOL). At median time of 6.0 years after ICU discharge, forty-six ARDS survivors were tested with SKT, a short cognitive performance test for assessing deficits of memory and attention. A measure of HRQOL (SF-36 Health Status Questionnaire) was also administered, and in a brief psychiatric interview, employment status was rated. 23.9% (n=11) of the patients showed cognitive impairments. However, no extreme and severe cognitive deficits were recorded. They primarily revealed low levels of cognitive function in various tasks assessing attention skills. Disability was found in 41.3% (n=19) of the patients. All ARDS survivors with cognitive deficits were disabled, whereas only 22.9% (n=8) of the cognitively not impaired patients gave evidence of disability. The SF-36 values of the ARDS survivors indicated impaired health status on seven out of eight domains when compared to normative population data. Patients with cognitive deficits described the lowest HRQOL with major limitations in the domains role-physical and social functioning when compared to patients without cognitive impairments. In conclusion, long-term ARDS survivors exhibit impaired health status and the presence of cognitive deficits is associated with disability and considerable impairments in HRQOL. More detailed psychiatric research is required to establish the etiology of these cognitive impairments.

Acute Disease↗
PubMedDate not supplied

Maternal trace elements, vitamin B12, vitamin A, folic acid, and fetal malformations.

The demonstrated teratogenicity of maternal zinc deficiency in rats has led to burgeoning interest in zinc and other trace elements as important factors in embryonic development. Levels of zinc, copper, manganese, magnesium, folic acid, vitamin B12 and vitamin A were evaluated at the beginning of pregnancy in the plasma of pregnant women who later delivered a malformed newborn. Fetal chromosomal anomalies and recognizable nonchromosomal syndromes were excluded. The results were compared to control women who delivered normal babies. One hundred seventy mothers had malformed children. The more frequent congenital malformations were congenital heart diseases (72 cases including 24 VSD), musculoskeletal malformations (21 cases), urogenital malformations (23 cases), spina bifida (6 cases), hydrocephaly (6 cases), and labial cleft (14 cases). Maternal plasma concentrations of zinc, copper, magnesium, manganese, folate, vitamin B12, and vitamin A of malformed children did not differ from controls. Thus vitamin profiles do not form a suitable means for identifying women at risk for having a child with congenital malformations.

Congenital Abnormalities↗
PubMedDate not supplied

Different policies on prenatal ultrasound screening programmes and induced abortions explain regional variations in infant mortality with congenital malformations.

OBJECTIVE: To compare the impact of induced abortions (IA) on the mortality of infants with congenital malformations in four European regions with different policies on IA and prenatal ultrasound screening for congenital malformations. METHODS: A registry-based collection of data on congenital malformations in four different countries: Ireland (Dublin), Denmark (Funen County), Austria (Styria), and France (Strasbourg). RESULTS: The proportion of infant deaths with malformations ranged from 23 to 44% of all infant deaths with the highest proportion in Dublin, where IA is not allowed and prenatal ultrasound screening not performed. There were highly significant differences in the prevalences of IA (p < 0.001), fetal deaths (p < 0.01), and deaths in infants with congenital malformations (p < 0.001) between the four regions. The differences in total mortality with congenital malformations (IA + fetal deaths + infant deaths) between regions decreased, and only Strasbourg differs significantly from the other three regions. CONCLUSION: Prenatal ultrasound screening programmes have only a minor impact on total mortality with congenital malformations from 2nd trimester of pregnancy to 1 year of age, but seem to change the time of death which may be important for both the parents and the community.

Abortion, Induced↗
PubMedDate not supplied

Sirenomelia and situs inversus: case report and review of the literature.

We report a case of sirenomelia of the symelia dipus type which is associated with complete situs inversus. Sirenomelia is difficult to diagnose prenatally because of a frequently associated oligohydramnios. Symelia dipus type adds to the difficulty of the diagnosis, since the bones of the thighs and legs are fully formed. In fact, a close examination of the cases of sirenomelia previously reported in the literature shows that a prenatal diagnosis was achieved only when the oligohydramnios was no more than moderate and/or the associated malformation was of apus or unipus type. We propose a systematic amnioinfusion when one suspects symelia unipus type. Finally, the pathogenesis of sirenomelia is discussed, as the presence of a complete situs inversus in the case reported here could illuminate the debate concerning the origin of the malformation.

Adult↗
PubMedDate not supplied

[Reverse type of cri du chat disease: 5 p trisomy].

Five patients with a trisomy of the main part of the short arm of a chromosome 5 represented with the clinical picture of the reversetype of the Cri-du-chat syndrome. Its main features are the spurt of gonions, prominent chin, prominent nose root, subnormal skull perimeter, low I.Q. and muscular hypotonia.

Adolescent↗
PubMedDate not supplied

[Hemoglobin Stanleyville II and mucoviscidosis in an Alsatian family].

Hemoglobin Stanleyville II, resembling hemoglobin D, has been found several times in individuals from Central Africa. This paper now reports its discovery in Alsace, in an 8 year old girl with cystic fibrosis. The mother and 5 out of 7 siblings had the abnormal hemoglobin. Only 2 of these 5 children had all the symptoms of cystic fibrosis. The family has been living in Alsace for many generations. Cystic fibrosis, a congenital disease, has a high incidence (1/1,800) among white children but is rare in black people.

Adult↗
PubMedDate not supplied

[Hereditary chronic pancreatitis: an autosomal dominant disease (author's transl)].

We have studied a family in which three people, two child and an adult had hereditary pancreatitis. Hereditary pancreatitis is not a common disease. Abdominal pain is usually the first clinical sign in children. The knowledge of the existence of such a disease and familiarity with the family history of the child allow the pediatrician to make the diagnosis as soon as the first crisis appears. Surgery is thus avoided. Our studies show definitively that this disease is hereditary and is autosomal dominant with a strong decrease of the penetrance.

Adult↗
PubMedDate not supplied

[Salmonella panama responsible for meningitis secondary to febrile gastroenteritis in a 3-month-old infant].

The authors report a case of meningitis following enteritis due to Salmonella Panama (group D). The severity of Salmonella infection is especially correlated with hematogenous dissemination, through a transitory lack of intestinal immunity. The limited efficacy of antibiotics in salmonellosis is responsible for an ambiguous preventive attitude towards salmonella meningitis.

Diarrhea, Infantile↗