Deficiency in complex IV of mitochondria respiratory chain

Mitochondrial cytopathies are diseases due to a defect of mitochondrial respiratory chain and are characterized by the presence of morphological abnormalities of mitochondria. These diseases may be due to alterations of the mitochondrial or the nuclear genome. The clinical manifestations can be polymorphic as various organs may be involved. We report the case of a 2-year-old boy who has a declined development correlated with a distal renal tubular acidosis. His behavioural and motor development was normal until l2months when a regression of his motor milestones with a pyramidal syndrome was noted. The metabolic investigation and the cranial MRI revealed a Leigh syndrome. The biochemical and immunological studies on biopsied skeletal muscle and cultured skin fibroblasts showed a deficiency in the complex IV respiratory chain [cytochrome c oxidase or COX]

Right diaphragmatic paralysis in newborn

Isolated diaphragmatic paralysis is a rare affection in newborn. It is often associated to a brachial paralysis due to obstetrical factors. The authors report two cases of right diaphragmatic paralysis revealed by a respiratory distress developed immediately at birth in two male newborns, a premature of 34 weeks of gestation and a full-term infant, born after breech delivery and perinatal suffering. The chest radiography and the radioscopy confirmed the diagnosis of right diaphragmatic paralysis. It was isolated in the premature and associated to a facial paralysis and bilateral brachial paralysis in the full-term newborn. The evolution of the respiratory distress was favourable after a non invasive ventilation of some days in the both cases. Besides, the full-term infant kept a severe neurological distress and dies at 36 days of age by a nosocomial infection. At 16 months of age, the premature did not present respiratory abnormalities but keeps another ascent of the dome right hemidiaphragm. The prevention of this affection is very important by eutocic progress of the delivery

[Pediatric emergency in Mahdia hospital]

To study the profile of the emergency users, the attitude of the doctors providing medical care and the degree of satisfaction of those users. Prospective study concerning the pediatric emergency users into a 3rd level hospital, during 3 different periods between 26/05/2002 and 25/09/2003. The medium age of the consultants was 3 years, the sex ratio was 1, 03. 58,3 per cent belonged to modest socio-economic level, 65,7 per cent of then hadn't a treating doctor for following, and 68,3 per cent of the childs were brought by the proper initiative of their parents. The expectation delay before the consultation was less then 15 minutes in 57,3 per cent of the cases. After consultation, this delay was less than one hour in 50,7 per cent of the cases and between 1 and 3 hours in 44,3 per cent of the cases. 14,7 per cent of the children were hospitalised. The emergency case was considered simple or just a felt-emergency in 50,7 percent of the cases, and it was a simple consultation in 28,1 per cent of the cases. 46 per cent of the parents were "satisfied" of services. The major part of consultations at the emergency services is not justified. We have to educate the parents about how important is to have a family doctor, to supervise emergency structures to improve the quality of the offered services

[Recessive osteopetrosis: new mutation]

Autosomal Recessive osteopetrosis [ARO] is a severe bone disease, whose cellular defect is consisting in impaired osteoclast bone resorption, resulting in generalized osteosclerosis and obliteration of marrow. The molecular defect is heterogeneous. 50 per cent of ARO patients show an abnormality in the TCIR1 gene coding for the a3 subunit of vacuolar proton pump that plays a fundamemtal role in acidifying the osteoclast-bone interface. We report a new case with mutation in the TCIRG1 gene. The patient, a 4 months old male infant, presented with exophthalmia, macrocephaly, hepatosplenomegaly, a very severe bone sclerosis,anemia, thrombocytopenia, optic atrophy, with fatal outcome at second year. He has the mutation G11049T in homozygous state in the TCIRG1 gene, this mutation is in heterozygous state in the parents. Prenatal diagnosis was carried out in the mother by amniocentesis performed at 16 weeks of second gestation. The fetal DMA analysis showed that same mutation were present in heterozygous state. A healthy baby with no clinical, radiological or abnormalities was delivered

[Idiopathic pulmonary hemosiderosis rescue treatment with chloroquine: a case report]

Idiopathic pulmonary haemosiderosis is a rare but potentially lethal disorder. Long-term treatment with corticosteroids may improve the prognosis of this disease. Other immunosuppressive agents have been used in a small number of cases with encouraging results. We report a case of a twelve year old girl presenting a severe form of Idiopathic pulmonary haemosiderosis treated long-term high-dose steroids. That leeds to significant side effects. Chloroquine used after inefficiency of Azathioprine induced a subsequent remission

Biosorption of metal dye from aqueous solution onto Agave Americana [L.] fibres

In this research, a new low cost and abundant biosorbent; Agave americna [L.] fibres has been investigated in order to remove metal dye [Alpacide yellow] from aqueous solutions. In order to optimize the biosorption process, the effect of pH, temperature, contact time and initial solution concentration was investigated in batch system. The results indicated that acidic pH=2 was favourable for metal dye removal. The increase of temperature increases the velocity of the biosorption reaction. The biosorption kinetics of alpacide yellow were closer to the pseudo-second order than to the first order model for all concentrations and temperature. The calculated thermodynamic parameters such as rG0, rH0 and rS0 indicated a spontaneous and endothermic biosorption process of metal dye onto Agave americana fibres. The equilibrium data were analysed using the Langmuir and Freundlich isotherms and showed a good fit with Langmuir model at lower temperatures and with Freundlich model at 50 C

[Meckel Gruber syndrome a case report]

Meckel Gruber syndrome is a rare lethal autosomal recessive disorder characterized by a clinical and genetical heterogenicity. Currently, the diagnosis is based on some major criteria: occipital meningo-encephalocele, bilateral polycystic displastic kidneys and postaxial polydactily. Prenatal diagnosis by a transvaginal ultrasound is possible at the 11th week of gestation justifying therapeutic abortion. The prevalence little valued in our country and the variability of the genes according to ethnics as well as their expression phenotypic in the same ethnic opens perspectives in the fundamental research as for the positioning of genes and the survey of their expression

Adsorptive removal of textile reactive dye using Posidonia oceanica [L.] fibrous biomass

The Mediterranean seagrass Posidonia oceanica [L.] leaf sheaths were used as low cost, available and renewable biological adsorbent for the removal of reactive textile dye from aqueous solutions. Batch experiments were carried out for sorption kinetics and isotherms. Operating variables studied were temperature, pH and chemical pre-treatment. Biosorption capacity seems to be enhanced by increasing the temperature. Maximum colour removal was observed at pH 5. Pre-treating fibres with H[3]PO[4] and HNO[3] solutions increased the adsorption efficiency up to 80%. Experimental sorption kinetic data were fitted to both Lagergren first-order and pseudo-second-order models and the data were found to follow first-order equation for raw fibres and pseudo-second-order for pre-treated ones. Equilibrium data were well represented by the Freundlich isotherm model for all tested adsorption systems. Besides, the thermodynamic study has showed that the dye adsorption phenomenon onto P. oceanica biomass was favourable, endothermic and spontaneous

[Chediak- Higashi Syndrome. report of one case]

Chediak - Higashi syndrome is a rare hereditary disease. Most patients develop an accelerated phase of the disease. Once accelerated phases occurred, the disease is invariably fatal before the use of etoposide. We report the case of a 5 year-old girl with consanguineous parents, presenting a partial oculocutaneaous hypopigmentation admitted because of protracted fever, lethargy, paler and hepatosplenomegaly. Laboratory results confirmed the diagnosis of hemophagocytic syndrome. The finding of a large cytoplasm granules in born marrow leucocytes confirmed the diagnosis of Chediak Higashi syndrome. Treatment with immunoglobulin, steroids and cyclosporine induced a transitory remission and a relapse occured after 3 weeks. The use of etoposide associated with precedent treatment leads to a prolonged remission and bone marrow transplantation was succefuly performed after 5 months. This case reports the severity of accelerated phase of Chediak- Higashi syndrome and the efficiency of the treatment with etoposide

[Forein bodies in the tracheo-bronchial tree. about 94 cases]

This is a study about 94 tracheo-bronchial foreign bodies observations. The most frequent involved age is between 1 and 2 years [64.5 per cent]. The penetration syndrome found in 74, 4 percent of case. Physical examination is often abnormal [79.7 per cent]. The chest radiography shows emphysema [39.9 per cent] or atelectasis [18.08 per cent]. No mortality case was reported

[Hereditary osteo-onychodysplasia. a case report]

Hereditary osteo-onycho-renal dysplasia is a rare genetic disorder also known as nail patella syndrome. It is an autosomal dominant hereditary disease with complete penetration but variable expressivity. The basic manifestations include: iliaque horns, finger nail abnormalities, patella hypoplasia or aplasia and elbow deformities. Nephropathy accompanied by mild proteinuria is also thought to be a commun manifestation. We report the case of 7 years old boy and his family who show clinical features of NPS

Atypical Aicardi's syndrome on two sisters not twins

Aicardi's syndrome is a rare genetic disorder characterized by heterogeneity of clinical findings and prognosis. The characteristic features include infantile spasms, agenesis of the corpus callosum and chorioretinal lacunae. This syndrome is seen almost exclusively in female and is often sporadic. However, some familial cases were reported in the literature. The prognosis is unpredictable. It is grave in most of cases with severe psychomotor retardation. The authors report two sisters not twins, from a consanguineous familily with atypical Aicardi syndrome diagnosed at 2 months of age. Clinical feautures were infantile spasms, partial agenesis of the corpus callosum and atypical ophthalmologic abnormalities. Evolution was marked by severe psychomotor retardation, scoliosis and severe recurrent pneumonia entailing the death of one of the patients at 3 years of age

[ malignant adrenocortical carcinoma of the child to a comment]

Malignant corticossurrenaloma is very rare in childhood. It occurs more often before the age of 5 years. Its pathogeny remains unknown but a genetic predisposition was suggested. The tumor is usually of secreting type and revealed by virilisation and/or Cushing syndrome, seldom by feminization and exceptionally by Conn syndrome. We report the case of a 7 years old girl who presented with a hetero-sexual precocious pseudo-puberty associated to a Cushing syndrome. The clinical examination found an abdominal mass. Hormonal investigation confirmed androgen and gluco-corticoid hypersecretion. Malignancy of the tumor was evoked by MRI. Evolution was marked by a tumoral rupture which required a laparotomy in emergency. The anatomo-pathological examination confirmed the diagnosis. In spite of a favorable immediate post operative evolution, the child died eight days later. Through this observation, we discuss the clinical, biological, therapeutic and evolutive aspects of this affection

[Acute post-streptococcal glomerulonephritis and pneumonia. About 6 cases]

Acute post-streptococcal glomerulonephritis [GNA] typically occurs 7-14 days after streptococcal infection, however some children can develop GNA concomitantly with bacterial pneumonia. ONA and pneumonia is a rare association, its often underestimated, its etiopathogenie remains still not clear. The purpose of this study is to analyse the etiopathogeny, clinical course and the outcome of this association. It is about 6 children hospitalized for GNA and pneumonia among 417 cases of GNA admitted between 1982 and 2003. All patients had at the time of admission abnormal urianalysis associated with respiratory manifestations. The evolution was favorable at 5 patients while the last one presented an empyema, nephrotic syndrome and died by pulmonary emboly. In conclusion the presence of a renal symptomatology at a child with pneumonia should be evaluated for concomitant GNA. This glomerulonephrite has generally a good prognosis, but sometimes specific therapeutic interventions are necessary to avoid the risk of renal failure