PubMed Health⌕ Search

Biomedical subjects

M Jokic

Publications and source records attributed to M Jokic.

14 recordsLinked to original sources
PubMed2006

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.

BACKGROUND: Pompe disease is a progressive metabolic neuromuscular disorder resulting from deficiency of lysosomal acid alpha-glucosidase (GAA). Infantile-onset Pompe disease is characterized by cardiomyopathy, respiratory and skeletal muscle weakness, and early death. The safety and efficacy of recombinant human (rh) GAA were evaluated in 18 patients with rapidly progressing infantile-onset Pompe disease. METHODS: Patients were diagnosed at 6 months of age and younger and exhibited severe GAA deficiency and cardiomyopathy. Patients received IV infusions of rhGAA at 20 mg/kg (n = 9) or 40 mg/kg (n = 9) every other week. Analyses were performed 52 weeks after the last patient was randomized to treatment. RESULTS: All patients (100%) survived to 18 months of age. A Cox proportional hazards analysis demonstrated that treatment reduced the risk of death by 99%, reduced the risk of death or invasive ventilation by 92%, and reduced the risk of death or any type of ventilation by 88%, as compared to an untreated historical control group. There was no clear advantage of the 40-mg/kg dose with regard to efficacy. Eleven of the 18 patients experienced 164 infusion-associated reactions; all were mild or moderate in intensity. CONCLUSIONS: Recombinant human acid alpha-glucosidase is safe and effective for treatment of infantile-onset Pompe disease. Eleven patients experienced adverse events related to treatment, but none discontinued. The young age at which these patients initiated therapy may have contributed to their improved response compared to previous trials with recombinant human acid alpha-glucosidase in which patients were older.

Dose-Response Relationship, Drug↗
PubMed2006

[Fulminant influenza type A associated myocarditis: a fatal case in an 8 year old child].

Fulminant Influenza type A-associated myocarditis are very rare in children. The clinical presentation is non specific, like flu illness, cardiogenic shock or sudden cardiac arrest. We report the case of a eight years old girl with a fulminant Influenza A-associated myocarditis with a fatal evolution despite the use of an extracorporeal membrane oxygenation (ECMO). The aim of this observation is to remind that influenza in children, usually considered as a benign illness, can exceptionally be complicated by a fulminant myocarditis. Because the possibility to recover a full myocardial function, the persistence of severe heart failure despite the medical treatment should conduct rapidly to a mechanical circulatory assistance.

Child↗
PubMed2006

[Tricuspid valve endocarditis after umbilical piercing].

We report a case of a 16 years old girl who was affected by a septicemia with a septic arthritis of the wrist and a tricuspid endocarditis, 3 months after a navel piercing. The blood culture and the liquid of puncture showed Staphylococcus aureus. A treatment prolonged by intravenous antibiotics permitted a progressive regression of endocarditis, without surgical intervention. The piercing must be achieved in conditions of strict asepsis, it must be advised against to the patient with congenital heart disease. In case of realization of a piercing an antibiotic prophylaxis must be achieved, while using preference pristinamycin in case of cutaneous piercing and amoxicillin in case of mucous piercing. Indeed, infective endocarditis after body piercing are more often brought back with a generally sterner evolution that in our observation.

Adolescent↗
PubMed2005

[Acute myocarditis with Toxoplasma gondii. A case report in a newborn].

Acute myocarditis with Toxoplasma Gondii in immunocompetent patients is rare and the paediatric cases touch old children. These myocarditis lead sometimes cardiac insufficiency and sometimes mimic a myocardial infarction. The evolution is often favorable, even when there is no pest-destroying treatment. We report a case of myocarditis toxoplasma Gondii with which has occurred in a 11 month and half old infant, whose evolution was favorable with a symptomatic and pest-destroying treatment. The interest of this observation is related to the scarcity of acute myocarditis caused by toxplasmosis in infant without immunoinsufficiency.

Acute Disease↗
PubMed2003

[Otogenic cavernous sinus thrombophlebitis. A case report].

OBJECTIVES: Acquire knowledge concerning the diagnosis and treatment of otogenic cavernous sinus thrombophlebitis. PATIENT AND METHODS: We report a case of otogenic cavernous sinus thrombophlebitis (CST) in a 6-year-old boy. RESULTS: CST diagnosis was based on clinical signs (septic illness, ocular nerve palsy and chemosis), and neuro-imaging confirmed the diagnosis. Contrast-enhanced CT scan demonstrates different signs: (i) filling defect or heterogeneous enhancement of cavernous sinus, (ii) cavernous sinus enlargement with bulging of the lateral wall, (iii) intensive enhancement of lateral wall corresponding to enhancement of a collateral network replacing the thrombosed cavernous veins, (iiii) and sometimes indirect orbital signs (exophthalmus, densification of the retro-orbital fat, superior ophthalmic dilatation with partial or no enhancement in case of thrombosis extension). The bacteria most frequently found are Streptococci, Streptococcus pneumoniae, Staphylococcus aureus, Gram-negative rods and anaerobes combined. The therapeutic management of CST consists of intravenous administration of appropriate antibiotics combined radical mastoidectomy if medical therapy has failed. Anticoagulant therapy is controversial. CONCLUSION: Knowledge of early diagnosis of otogenic cavernous sinus is important because prior to the antibiotic era, CST was almost always fatal. Currently, therapeutic outcome is not always favorable due to high morbidity after aggressive treatment.

Cavernous Sinus Thrombosis↗
PubMed2000

[Viral co-infections in immunocompetent infants with bronchiolitis: prospective epidemiologic study].

The nature of viral infection was prospectively investigated in 202 immunocompetent infants with bronchiolitis. Nasal aspirates were evaluated by immunofluorescence assay, viral isolation technique and polymerase-chain-reaction-hybridization assay. In 55 infants (27%) more than one respiratory virus were detected. A Rotavirus was found in 40 infants (20%), without any relationship with the respiratory viral status, respiratory syncytial virus being the main virus (46/55), and the association of respiratory syncytial virus and adenovirus being the most frequent (21/55). No difference was found between monoviral infections on the one hand and simultaneous viral infections on the other hand according to age, weight, neonatal disease, past history of personal or familial atopy, central temperature, Silverman's index, oxygen dependency, length of hospitalization, microbiology data. There was no indication that simultaneous virus infections were associated with an increased severity of the bronchiolitis in immunocompetent infants.

Adenoviridae Infections↗
PubMed2000

[Late revealing of congenital diaphragmatic hernia: diagnostic difficulties].

Two patients, aged four and six months, with congenital diaphragmatic hernias, and who presented outside of the neonatal period, are reported. Clinical presentation was a progressive respiratory failure, and radiographic findings showed a consolidation of the left lung, associated with a pneumothorax in one and an ascites in the other. One had previous normal chest X-rays. All cases with herniated bowel showed connecting bowel segments passing through the diaphragmatic defect. All were repaired via an abdominal approach. Delay in presentation of congenital diaphragmatic hernias is not uncommon. Long-term prognosis is favourable and postoperative morbidity is minimal, despite late presentation and undesirable time delay between first sign and surgery.

Age Factors↗
PubMed2000

[Obstructive sleep apnea syndrome and hypertrophic tonsils in infants].

BACKGROUND: Even if failure to thrive in infants suffering from obstructive sleep apnea syndrome (OSAS) due to hypertrophic tonsils is well documented in the literature, the surgical act is often delayed due to the lack of diagnostic evidence. CASE REPORTS: We report three cases which share the common characteristic of age of onset, tonsillar hypertrophy, growth retardation and growth catch-up after tonsillectomy. Authors emphasize the importance of clinical diagnosis as a sufficient tool in making the decision of surgery, thus avoiding unnecessary and expensive investigations. CONCLUSION: The diagnosis of OSAS in infants and children is essentially clinical, depending mainly on a history provided by the parents, laying stress on nocturnal symptoms and clinical examination. Growth retardation is frequent in this syndrome and should be systematically sought. Tonsillectomy, which is effective in relieving respiratory manifestations, also allows growth recovery.

Age of Onset↗
PubMed2000

Fetal distress increases interleukin-6 and interleukin-8 and decreases tumour necrosis factor-alpha cord blood levels in noninfected full-term neonates.

OBJECTIVE: To assess the influence of fetal distress on interleukin-1beta, interleukin-6, interleukin-8 and on tumour necrosis factor-alpha blood levels in noninfected full-term neonates. STUDY DESIGN: In a multicentre prospective study, cord blood samples were obtained at time of delivery from 234 noninfected full-term neonates for the purposes of measuring serum levels of interleukin-1beta, interleukin-6, interleukin-8 and tumour necrosis factor-alpha using immunoassays. Women were classified into four groups according to the mode of delivery (vaginal delivery or caesarean section) and the presence or absence of fetal distress. The role of labour was also investigated. RESULTS: No significant relationship was found between cytokine cord blood levels and the mode of delivery. Fetal distress was associated with an increase in interleukin-6 (P = 0.01) and interleukin-8 (P < 0.001) levels, and a decrease in tumour necrosis factor-alpha (P < 0.001). Labour was also associated with a significant increase in interleukin-6 and interleukin-8 cord blood levels (P = 0.01 and P < 0.001, respectively). CONCLUSION: Fetal distress and labour were each associated with elevated interleukin-6 and interleukin-8 cord blood levels in noninfected full term neonates while only fetal distress was associated with decreased tumour necrosis factor-alpha levels.

Delivery, Obstetric↗
PubMed1999

Alagille syndrome with cavernous carotid artery aneurysm.

We present a case of right sided blindness caused by a cavernous carotid artery aneurysm in a 17-year-old patient presenting with an Alagille syndrome. The diagnosis was made by magnetic resonance imaging and confirmed by angiography. This aneurysm was treated successfully with endovascular placement of detachable balloons. Cerebral vascular malformations are rarely reported in association with this syndrome. We discuss the clinical presentation, diagnosis, treatment and detection of this type of abnormality.

Adolescent↗
PubMed1999

[Cardiac involvement during classic hemolytic uremic syndrome].

BACKGROUND: Cardiac involvement rarely occurs in classic hemolytic uremic syndrome (HUS); it is often fatal. CASE REPORTS: The first patient, a 21-month-old boy, developed classic HUS with acute renal failure. Peritoneal dialysis was performed for 20 days. On the 10th day of dialysis, myocardial infarction occurred, probably related to coronary thrombus. The patient was given heparin and antibiotics because of an unexplained fever. The outcome was favorable despite antero-apical cardiac necrosis, and moderated chronic renal failure. The second patient, a 24-month-old girl, also showed a classic HUS, which required peritoneal dialysis for 10 days. Dilated cardiomyopathy with cardiac failure appeared on the 4th day of dialysis, not related to the volume overload and metabolic consequences of the acute renal failure, such as systemic hypertension or ineffective dialysis. On the 5th day of dialysis neurological involvement appeared. Neurological, cardiac and renal outcome was favorable. The third patient, a 25-month-old girl, developed a classical HUS, requiring peritoneal dialysis for 25 days. No cardiac insult appeared during the acute phase of the disease. After dialysis, the child had chronic renal failure (creatinine clearance: 15 mL/min/1.73 m2). Dilated cardiomyopathy appeared 3 months later, without definite etiology. The outcome was favorable with digoxin treatment. CONCLUSION: A cardiac involvement should also be searched for in the acute phase of HUS and several months later.

Acute Kidney Injury↗
PubMed1994

Transition from normal to premutated alleles in fragile X syndrome results from a multistep process.

In fragile X syndrome, the most common cause of inherited mental retardation, phenotypic expression has been linked to a region containing a repetitive sequence, (CGG)n, that appears to lengthen dramatically in fragile X patients and to show length variation in normal individuals. In order to investigate possible mechanisms responsible for further expansion of CGG in the normal population, we selected 31 normal unrelated X chromosomes carrying either the high-risk DX204-AC155 or DX196-AC151 haplotypes, as defined by the flanking microsatellites, DXS548 and FRAXAC2. Nearly 100% of CGGs with more than 35 repeats were found on DX204-AC155 haplotypes, with a mean length significantly higher and much more variable than in normal individuals carrying other haplotypes including the high-risk haplotype DX196-AC151. These findings suggest that the transition from the normal to the abnormal range occurs by a multistep process, a primary event, such as unequal crossing-over, leading to increased size and moderate instability of the repeat, and from which DNA polymerase slippage could lead to recurrent premutations. Our results also suggest that the upper limit of the normal range is roughly 35 repeats in the fragile X gene. The 36-54 repeats range would define an intermediate allele only observed, up to now, in DX204-AC155 fragile X chromosomes.

Analysis of Variance↗