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Biomedical subjects

F Freycon

Publications and source records attributed to F Freycon.

At least 19 recordsLinked to original sources
PubMed1999

Myelofibrosis: an unusual presentation of vitamin D-deficient rickets.

UNLABELLED: We present the case of a breast-fed 5-month-old infant who presented with pancytopenia, secondary to intense myelofibrosis during the winter months because of undiagnosed rickets. The patient responded to oral vitamin D with rapid resolution of symptoms. Secondary hyperparathyroidism was the probable cause of the myelofibrosis. CONCLUSION: Although nutritional rickets remains a problem in developing countries, children in northern climates in industrialized countries may also be at risk. Rickets must be considered when assessing myelofibrosis in a very young child.

Humans↗
PubMed1998

Is there IgA from gut mucosal origin in the serum of children with Henoch-Schönlein purpura?

Thirty-two children with Henoch-Schönlein purpura with or without renal symptoms were studied to characterize the IgA hyperglobulinemia observed in the serum of most patients. It was shown that only the IgA1 subclass concentration was increased. Secretory IgA and IgA to gliadin levels were frequently increased in serum, with a good correlation between them. Circulating IgA immune complexes were detected often and contained high activity to gliadin. In contrast, IgA activity to tetanus toxoid did not change. We failed to show any differences in renal involvement. These data suggest that elevation of serum IgA in Henoch-Schönlein purpura is due in part to a disturbance of the gut mucosal immune system, and the presence of circulating IgA immune complexes with dietary antigens can be postulated but cannot explain the occurrence of urinary symptoms.

Adolescent↗
PubMed1997

[A familial case with generalized resistance to thyroid hormones].

BACKGROUND: The syndrome of generalized resistance to thyroid hormones is more frequent than was thought. CASE REPORTS: A 13-year old girl was examined for her short stature. Evaluation of her thyroid function showed increased levels of IT3 and IT4 and normal value of TSH; she also had mosaic Turner's syndrome. Her cousin was rapidly diagnosed as suffering from the same syndrome because of moderately high thyrotropic levels found during neonatal screening; this syndrome was confirmed by molecular biology tests. Five generations of this family were identified as being affected with a pattern indicating autosomal dominant inheritance. CONCLUSION: The clinical manifestations of familial generalized resistance to thyroid hormones vary but this syndrome is easy to biologically confirm. The importance of diagnosing affected children as early as possible should be emphasized, as in such cases their development must be closely monitored particularly where their growth and neurodevelopment are concerned.

Adolescent↗
PubMed1995

[Follow-up of allogenic bone marrow graft with DNA polymorphisms. Use of two minisatellite MS31 and MS43 probes. Comparison with data of chromosomal polymorphisms].

OBJECTIVES: Allogenic bone marrow transplantation is widely used to treat many diseases of the haemopoietic system as well as metabolic disorders. Follow-up is essential to assess acceptance, rejection or post-graft relapse. This study was undertaken to evaluate the usefulness of the minisatellite probes MS31 and MS43 used as a routine follow-up test after bone marrow transplantation. METHODS: Twenty receivers of allogenic bone marrow transplants were followed-up. Two monoclonal minisatellite probes, MS31 and MS43, were used for comparison with the classical polymorphism methods. RESULTS: Fourteen cases of total chimeras, 3 cases of rejections and 3 cases of mixed chimeras were observed with the molecular probe techniques. In 19 of the 20 cases, this technique gave results compatible with classical polymorphism results. CONCLUSIONS: The minisatellite probes MS31 and MS43 were found to be sensitive, effective tests for bone marrow transplants which can be used in routine follow-up.

Adolescent↗
PubMed1995

A mutation located at the 5' splice junction sequence of intron 3 in the p67phox gene causes the lack of p67phox mRNA in a patient with chronic granulomatous disease.

Chronic granulomatous disease (CGD) is due to a functional defect of the O2(-)-generating NADPH oxidase of neutrophils. Mutations resulting in CGD have been shown to occur in only four genes, thus identifying the main components of the oxidase complex, namely the two subunits of a membrane-bound cytochrome b and two cytosolic factors of activation of 67 kD (p67phox) and 47 kD (p47phox). The present study deals with the biochemical and genetic analysis of the defect in a patient suffering from a p67phox-deficient form of CGD. The p67phox deficiency was ascertained by immunochemistry and the ability of recombinant p67phox to restore NADPH oxidase activity using a cell-free system of oxidase activation. The cellular extracts from the proband contained no p67phox protein and no p67phox mRNA when assayed by Western and Northern blot analysis. However, reverse transcription of mRNA and subsequent cDNA amplification by polymerase chain reaction using specific p67phox primers showed that trace amounts of a p67phox mRNA deleted for exon 3 were synthesized in the patient immortalized B lymphocytes. Sequence analysis of the genomic DNA showed a T-to-C transition at position +2 of intron 3. This point mutation in the consensus 5' splice site of the intron 3 was probably responsible for lack of accumulation of mRNA and also for the skipping of exon 3 detected in the few mRNA molecules that escaped cellular degradation.

Adult↗
PubMed1995

Fulminant liver failure in a 12-year-old girl with sickle cell anaemia: favourable outcome after exchange transfusions.

UNLABELLED: Acute liver failure is unusual in sickle cell anaemia. We describe a child with homozygous sickle cell anaemia who developed acute liver disease of abrupt onset during an episode of limb pain. She presented with sudden onset of persistent vomiting, headache, lethargy, epistaxis, and painful liver enlargement. Laboratory investigations were indicative of cholestasis and severe liver failure with profound prolonged clotting times, hypofibrinogenaemia, elevated serum ammonia and lactic acidosis. The symptoms were promptly and completely reversed by two partial exchange transfusions. No evidence of viral infection was found. Cholelithiasis was ruled out by ultrasonography. The child recovered from what appeared to be massive hepatic sickling with no apparent sequelae. CONCLUSION: Massive hepatic sickling should be considered in the differential diagnosis of a child with homozygous sickle cell disease who suddenly develops acute liver failure. Exchange transfusion should be promptly carried out so as to reverse ischaemic hepatic injury.

Acute Disease↗
PubMed1993

Bone marrow transplantation for acute myeloblastic leukaemia: an EBMT Leukaemia Working Party prospective analysis from HLA-typing.

The optimal post-remission therapy for patients with acute myeloblastic leukaemia remains controversial. Allogeneic bone marrow transplantation, autologous bone marrow transplantation, and consolidation chemotherapy are the major options. In order to evaluate their respective value the European Group for Bone Marrow Transplantation conducted a prospective registration study. Patients with newly diagnosed acute myeloblastic leukaemia were registered at the time of HLA-typing and intention to treat in case of presence or absence of an HLA-identical donor was recorded. 27/79 (34%) patients HLA-typed at diagnosis had an identical donor identified. The estimated survivals at 3 years from HLA-typing were 44% and 21% among patients with or without HLA-identical donor, respectively (P = 0.02). 22/26 (85%) patients for whom allogeneic bone marrow transplantation was intended were transplanted but only 15/47 (32%) patients for whom autologous bone marrow transplantation was intended were indeed transplanted (P < 0.001). The survival was 50%, 29% and 17% (P = 0.004) for patients treated with allogeneic bone marrow transplantation, autologous bone marrow transplantation, or chemotherapy, respectively. 40/68 patients HLA-typed in first complete remission had an HLA-identical donor. The estimated 3-year survival among patients typed in first remission with and without HLA-identical donors was 42% and 35% (n.s.), respectively. This technique of early patient registration illustrates the problems of patient selection during the course of the disease and might be used as a complement to randomized trials when comparing bone marrow transplantation and other treatment options.

Adolescent↗
PubMed1993

Transient erythroblastopenia of childhood presenting with echovirus 11 infection.

We report a case of transient erythroblastopenia in a three-year-old girl presenting with echovirus 11 infection. Viral infection was demonstrated by isolation of echovirus 11 in stool cultures and the presence of echovirus 11-specific IgM antibody in serum. We suggest that echovirus may have played a role in the pathogenesis of transient erythroblastopenia of childhood in this patient.

Anemia↗
PubMed1993

[Citrullinemia: management and clinical course. Apropos of a familial case].

The authors report two cases of citrullinemia in siblings which add to 68 observations from the literature. They overview the clinical presentation, diagnosis and therapeutic management of the disease. The prognosis of severe neonatal form remains poor but an early adequate management may contribute to an acceptable outcome.

Amino Acid Metabolism, Inborn Errors↗
PubMed1993

[Klinefelter syndrome in 1993. Results of a multicenter study on 58 cases and review of the literature].

A retrospective multicenter study found 58 cases of Klinefelter syndrome of which 23 (39%) were diagnosed before puberty. Although as common as Down syndrome, Klinefelter syndrome is underdiagnosed and often recognized only in adulthood. Suggestive manifestations in infants, children, and teenagers include facial dysmorphism, micropenis, and delayed speech and should lead to examination of the karyotype. Early recognition of Klinefelter syndrome could be achieved by routinely measuring the size of the testes in school-boys aged 11 to 15 years and performing a karyotype in boys with a volume of less than 2 ml. Early psychological and educational support and testosterone replacement therapy initiated at onset of puberty may lead to improved social and academic outcomes.

Adolescent↗
PubMed1992

[Intracranial venous sinus thrombosis in nephrotic syndrome].

A 3-year old child was admitted for a third relapse of nephrotic syndrome associated with intracranial hypertension related to dural sinus thrombosis (tomodensitometry). The treatment consisted in the association of low dose heparin and fresh frozen plasma. After a 3 year-follow-up, there was no neurologic sequelae, and the nephrotic syndrome was on complete remission. The radiologic features and the management of sinus thrombosis are discussed.

Brain↗
PubMed1992

[Abdominal aortic aneurysm and Bourneville's tuberous sclerosis].

The authors report on a case of tuberous sclerosis diagnosed in the neonatal period on the basis of intracardiac tumor, rib anomalies and cerebral calcifications. At 4.5 months of age the infant presented acute abdominal pains which led to the discovery (ultrasound identification confirmed by CT scan) of a giant ectasia of the whole abdominal aorta. The infant died 2 days later from the rupture of this aortic aneurysm.

Aortic Aneurysm, Abdominal↗
PubMed1992

[Multifocal tuberculosis with cerebellar tuberculoma].

A 10-year old child was admitted for vomiting and a high grade fever. He had been previously immunized twice against tuberculosis. A cerebellar syndrome appeared, and the brain CT scan showed an intracerebellar mass. Disseminated lesions were detected on abdominal (splenic abscess) and thoracic (mediastinal lymph nodes) CT scans. The bone scintigraphy also showed multiple localisations. A craniotomy was performed that revealed a cerebellar tuberculoma which was completely removed. The child received an antituberculous treatment over 18 months and is currently well with a 5 year follow-up.

Antitubercular Agents↗
PubMed1992

[Hematuric cystitis after bone marrow allograft: a case].

A 16-year-old boy experienced a severe macroscopic hemorrhagic cystitis 20 days after a partially mismatched allogeneic marrow transplantation for an acute lymphoblastic leukemia. The conditioning included cyclophosphamide and total body irradiation. After a conservative management, the hematuria spontaneously resolved after 3 months of gross hematuria. The authors review the literature, and stress the predisposing factors and clinical outcome of such complication. They advocate a conservative "watch-and-wait" approach including intensive bladder irrigation.

Adolescent↗
PubMed1992

[Blackfan-Diamond disease and malignancy: cause effect relationships?].

The authors report on a 24-year old patient with Blackfan-Diamond syndrome who developed a Hodgkin's disease. This patient became transfusion-dependent at the age of 10, after an initial period of corticosensitivity, and after failure of androgens. He developed hemochromatosis despite from parenteral chelation therapy. He died of infectious complications 4 months after the diagnosis of Hodgkin's lymphoma. A review of the literature shows an increased incidence of malignancies in Blackfan-Diamond syndrome (three cases of leukemia), and in similar disease (thalassemia and sickle cell disease), but not in other patients with hemosiderosis (primitive hemochromatosis, end-stage renal failure under dialysis). Etiopathogenic hypotheses are discussed.

Adult↗
PubMed1992

[Primary cerebromeningeal hemorrhages in children (except newborn infants)].

The authors report their experience on 22 children admitted for spontaneous subarachnoid hemorrhages, to the pediatric and neurosurgery units of the University-Hospital of Saint-Etienne. There were seven cases of subarachnoid hemorrhages (five ruptured arterial aneurysms and one angioma) and 15 cases with associated intracranial hematomas (eight angiomas, one cavernoma, one aneurysm). Seven of 15 children with hematoma died, compared to two of seven children with subarachnoid hemorrhage. Half of the patients with hematomas and 20% of those with subarachnoid hemorrhage had sequellae. This rare pathology should be diagnosed in emergency, since brain damage occurs secondary to raised intracranial pressure. The respective roles of tomodensitometry, lumbar puncture and arteriography are discussed. The surgery should be performed in emergency, because the most frequent etiology is a vascular malformation, and because there is a risk of unexpected deterioration. When an underlying cause cannot be found neither by arteriography not by surgery, the follow-up should include a tomodensitometry and/or magnetic imaging.

Adolescent↗