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Biomedical subjects

J Cousin

Publications and source records attributed to J Cousin.

At least 19 recordsLinked to original sources
PubMed2001

Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance.

Acromicric dysplasia is a rare bone dysplasia characterised by short stature, short hands and feet, normal intelligence, mild facial dysmorphism, and characteristic x ray abnormalities of the hands. Only a very small number of children with this condition have been reported so far. Here we report on a series of 22 patients including 10 boys and 12 girls with acromicric dysplasia. Length was normal at birth and height fell progressively off the centiles postnatally. The mean adult height was 130 cm (133 cm in males, 129 cm in females). The hands, feet, and limbs were short and OFC was normal. Intelligence was normal and mild dysmorphic features were noted. Other occasional features included well developed muscles, a hoarse voice, generalised joint limitation in some patients, frequent ear, tracheal, and respiratory complication, and spine abnormalities. Long term follow up showed that facial dysmorphism was less obvious in adults and that carpal tunnel syndrome was frequent in older patients. Apart from short metacarpals and phalanges, internal notch of the second metacarpal, external notch of the fifth metacarpal, and internal notch of the femoral heads, there were no major x ray abnormalities. No major complications, such as cardiac disease or major orthopaedic problems, occurred in the course of the disease. The condition appeared to be sporadic in 16 cases but the observation of vertical transmission in three families was consistent with an autosomal dominant mode of inheritance.

Abnormalities, Multiple↗
PubMed1999

Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief no. 217. Online.

Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/ bone/kidney tissue alkaline phosphatase (L/B/K ALP) activity. We report the characterization of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations in a series of 9 families affected by severe hypophosphatasia. Fourteen distinct mutations were found, 3 of which were previously reported in the North American or Japanese populations. Seven of the 11 new mutations were missense mutations (M45L, R119H, G145V, C184Y and H154Y, D289V, E459K), the four others were 2 single nucleotide deletions (544delG and 1172delC), a mutation affecting donor splice site (862 + 5A) and a nonsense mutation (R411X).

Alkaline Phosphatase↗
PubMed1999

MxA protein in capillary blood of children with viral infections.

Capillary blood of febrile children was lysed by using a lysis buffer containing ascorbic acid. MxA quantitation was performed by an immunochemiluminescent assay. The MxA values were significantly higher in capillary blood of infants with viral infections due to adenovirus (n = 5), rotavirus (n = 15), or respiratory syncytial virus (n = 28), than in capillary whole blood from infants with bacterial infections (n = 6) and healthy control patients (n = 20). A strong correlation was found between the MxA values in capillary whole blood and peripheral whole blood (r' = 0.86, P < 0.0001, n = 48). The MxA values found at these two sites were compared with the levels of IFN-alpha obtained by a dissociation enhanced lanthanide fluoroimmunoassay. A correlation between these two values was found. The results show that the combination of collection of blood by finger prick and specific immunochemiluminescent assay for MxA protein measurement may be of value for the diagnosis of viral infections in children.

Bacterial Infections↗
PubMed1998

The MxA protein levels in whole blood lysates of patients with various viral infections.

Interferon alpha (IFNalpha), a type I interferon, can be considered as a viral infection marker because this cytokine is induced during many viral infections. However, it is quite difficult to detect IFNalpha in sera. Investigations are interested in various intra-cellular IFNalpha-induced proteins as viral infection markers. However the activity of these enzymes increased not only in response to type I IFNs but also to type II IFN. MxA protein can be detected in the cytoplasm of IFNalpha/beta-treated cells, whereas other cytokines, including IFNgamma, are poor inducers. Using an immunochemiluminescent assay, we studied MxA protein in whole blood of 34 patients with various viral infections. The whole blood was drawn into sterile vacuum tubes containing heparin or EDTA. MxA values were relatively similar in heparin-treated samples and EDTA-treated samples, with differences not exceeding 1 ng/ml. The levels of MxA protein were compared in whole blood obtained by using two different lysis procedures. A correlation was found between the MxA levels obtained by using procedure I and procedure II, but higher amounts of MxA protein were found with procedure II. The second procedure is rapid and more convenient than the other and it is carried out in one step which reduce technical problems. High levels of MxA protein were found in peripheral blood cells of patients with acute viral infections (Rotavirus, Adenovirus, RSV, CMV), but MxA protein was not elevated in bacterial infections. The MxA levels were also studied in peripheral blood of 32 HCV positive patients. MxA protein was not found in most of IFNalpha-untreated patients, even those with high viral load. In contrast, high levels of MxA protein were found in IFNalpha-treated patients. MxA quantitation can be considered as a specific marker of acute viral infections, and could be useful in the management of treatment with IFNalpha.

GTP-Binding Proteins↗
PubMed1993

Defect in the lipoyl-bearing protein X subunit of the pyruvate dehydrogenase complex in two patients with encephalomyelopathy.

Among the many metabolic encephalomyelopathies caused by deficiencies in the pyruvate dehydrogenase complex (PDHC), nearly all involve its E1 subunit. We describe two new familial cases of PDHC deficiency with encephalomyelopathy, chronic lactic acidemia, and a normal E1 subunit of PDHC but deficiency in another component. Activity of PDHC was measured in cultured skin fibroblasts and skeletal muscle, and immunoblot studies were performed on mitochondrial extracts from skin fibroblasts. Spectra of muscle tissue, obtained in vivo with phosphorus 31 nuclear magnetic resonance, were recorded both at rest and with exercise. The PDHC activity was markedly reduced to 10% to 20% of normal values in both cultured skin fibroblasts and skeletal muscle. Immunoblotting of skin fibroblast mitochondrial extracts showed a specific deficiency in the protein X component of PDHC but normal E1, E2, and E3 components. Spectra obtained with 31P nuclear magnetic resonance showed alterations compatible with those found in mitochondrial myopathies. This is the second description of an encephalomyelopathy associated with a specific absence of the lipoyl-containing protein X component, which has a structural role in the formation of a functional PDHC.

Child, Preschool↗
PubMed1992

[Autochthonous strongyloidiasis in the north of France].

The authors discuss four cases of indigenous strongyloidiasis, which were detected in northern France during the past twenty years. In our hemisphere, the limits of this helminthiasis range between the 50th and the 53rd parallels of latitude. In two cases, indoor contamination must be suspected; in the third case, transmission has been facilitated by insalubrity and crowding; the fourth case was related to the activities of a dustman in camping sites. Nose bleedings were noticed in two cases and the haemorrhagic manifestations in strongyloidiasis are mentioned.

Aged↗
PubMed1991

[A case of intrauterine dwarfism with enlargement of the cortex of the long bones].

The case of a girl with severe, predominantly mesomelic, intrauterine dwarfism with acromicria is reported. Other anomalies included ligamentary hyperlaxity, clinodactyly of the fifth fingers, and narrow dental arches. Roentgenograms failed to disclose any metaphyseal or epiphyseal anomalies; long bones were narrow and short with thick cortices and the pelvis had an unusual appearance. This case is reminiscent of a constitutional disease with elective involvement of the cortices but distinctive features include the very early onset and the severity of statural growth failure.

Bone Diseases, Developmental↗
PubMed1991

[Pregnancy and traffic accident. A case report].

The authors report the case of patient (second pregnancy, first birth) who had been involved in a traffic accident which occurred on October 5, 1989 after 7 months of pregnancy. The trauma was scored 2 on the international Overall Abbreviated Injury Scale. The impact was frontal and the patient driving and wearing her seatbelt. After being admitted to hospital on several occasions with metrorrhagia and uterine contractions, it was decided to carry out a cesarian and a baby was successfully removed. The child presented with angulation of the left fore-arm and skeletal X-ray, particularly of the arms, revealed a fracture line with a callous already formed.

Accidents, Traffic↗
PubMed1990

[Spatial contrast sensitivity in multiple sclerosis].

Spatial contrast sensitivity was measured in 110 patients with multiple sclerosis (definite = 72, probable = 22, possible = 16) as part of a routine evaluation in a neuro-ophthalmological clinic. Results were compared with those of 37 normal controls matched for age. The test was abnormal in 71 p. 100 of patients. Contrast sensitivity was attenuated for 97 p. 100 of the eyes with optic neuritis and visual acuity drop, for 60 p. 100 of the eyes with recovered optic neuritis and for 36 p. 100 of the non affected eyes in the cases of unilateral optic neuritis. Among the 57 patients with normal visual acuity and no history of optic neuritis, 62 p. 100 had abnormal findings. Globally, contrast sensitivity was reduced on the whole spatial frequency range in cases of current optic neuritis, and mostly on the high or high and medium frequencies in the other cases. Our study confirms that spatial contrast sensitivity is the most sensitive of psychophysical methods to detect subclinical visual impairement in multiple sclerosis. Comparison with VEP's was performed in 66 patients. Both tests were roughly equally sensitive, but findings were concordant in only 63 p. 100 of the cases. The use of both VEP's and spatial contrast sensitivity increases the detection of latent optic neuritis.

Acute Disease↗
PubMed1989

[Hydrocholecystitis in children and newborn infants. Apropos of 3 cases].

We report two cases of hydrocholecystitis in children and one in a neonate. One child had hepatitis A and the other had typhoid fever. A beta-hemolytic group B streptococcal infection was found in the neonate. In all three cases, the first manifestation was an abdominal mass and treatment of the causative disease ensured recovery. These three observations provided us with the opportunity for reviewing the literature. Isolated hydrocholecystitis is distinguished from hydrocholecystitis as a symptom. The clinical evaluation and diagnostic investigations are described in detail; special attention is given to abdominal ultrasonography. Etiology and pathophysiology, as well as management are discussed. Our three cases and the review of the literature confirm the benign prognosis of this condition.

Child, Preschool↗
PubMed1989

[Chediak-Higashi disease: a new case treated by bone marrow allograft].

We report a new case of Chediak-Higashi disease successfully treated by the transplantation of allogeneic bone marrow. Recurrent infections led to the diagnosis of the disease at the age of 15 months. At two and a half years of age, during a phase of accelerated disease activity, the patient received a bone marrow transplant donated by an HLA-identical brother. The patient was conditioned by chemotherapy alone; T-cells were removed from the graft and cyclosporin A was given to prevent graft-versus-host disease. Evidence of acceptance of the transplant was apparent 14 days after the procedure. Two months after the transplant, the blood count was normal, NK activity was satisfactory and no evidence of GVH disease was present. Incomplete hematopoietic chimerism was found (with two erythrocyte and lymphocyte populations). After four years follow-up, the patient is doing well and has no infections or evidence of active disease.

Bone Marrow Transplantation↗
PubMed1989

[Lethal polymalformative syndrome with 13q deletion secondary to a maternal X; 13 translocation].

The authors report the case of a newborn full term delivered by cesarean section for evolutive hydrocephalus, in the last month of pregnancy. This hydrocephalus was confirmed by echography after birth. This also having ambiguous genitalia and atresia ani, he died a few hours later. No evidence of infectious or toxic embryofetopathy was found out as an etiologic factor, but the karyotype of the baby showed a 13 q deletion and that of the mother a non reciprocal Xqter; 13q31.3 translocation. The study of inactivation of X indicated that the inactivated X chromosome in each cell was normal. On this occasion, the authors try to bring together the main points of "13q-syndrome" and discuss on the practical approach of antenatal diagnosis which they could propose to the couple.

Abnormalities, Multiple↗
PubMed1988

Recessive lethal chondrodysplasia, "round femoral inferior epiphysis type".

Four cases of a sublethal form of chondrodysplasia are reported. The micromelic dwarfism is severe and on X-ray pictures the most striking feature is the shape of the lower femoral epiphysis, which is relatively well developed and rounded. The mode of inheritance is presumably autosomal recessive.

Epiphyses↗
PubMed1988

[A difficult cytogenetic diagnosis of 4p monosomy].

Monosomy 4p is rare; cytogenetic diagnosis is difficult when it is not oriented by clinical signs such as severe hypotonia, profound encephalopathy and dysmorphism ("casque de guerrier grec"). Parenteral karyotype is indispensable in case of translocation.

Adult↗