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Biomedical subjects

M Yacoub

Publications and source records attributed to M Yacoub.

At least 19 recordsLinked to original sources

[Canavan disease or N-acetyl aspartic aciduria: a case report].

Canavan disease or N-acetyl aspartic aciduria, is an autosomal recessive leukodystrophy characterized by spongy degeneration of brain. The disease is an inborn error of metabolism caused by aspartoacylase deficiency resulting from accumulation of N-acetyl aspartic acid in the brain. The authors report a case in a 10-month-old boy who presented with developmental delay and megalencephaly noticeable after 4 months of age. Magnetic resonance imaging of the brain showed diffuse white matter degeneration. The diagnosis of Canavan disease was confirmed by nuclear magnetic resonance spectroscopy and gas chromatography-mass spectrometry.

Aspartic Acid↗

[Pneumococcal meningitis mortality in children. Prognostic factors in a series of 73 cases].

OBJECTIVE: Despite advances in antibiotic therapy strategies and pediatric intensive care, prognosis of Streptococcus pneumoniae meningitis remains very poor. To determine the factors associated with hospital mortality of children with pneumococcal meningitis. METHODS: We conducted a retrospective study of 73 cases of childhood pneumococcal meningitis admitted in 4 teaching hospitals in the center of Tunisia during a 8-year period (1995-2002). RESULTS: Hospital mortality was 13.7% (10 of 71 patients), and neurologic sequela were observed in 34.5% of survivors. Based on univariable analysis, five variables were associated with the outcome: Pediatric Risk of Mortality score (p < 0.001), coma (p=0.0009), use of mechanical ventilation (p=0.0001), convulsions (p = 0.0449), and shock (p=0.0085). In multivariable analysis, only 2 factors were independently associated with in-hospital mortality: Pediatric Risk of Mortality score and the use of mechanical ventilation. 11.8% of pneumococcal isolates were intermediate and resistant to penicillin. Non-susceptible pneumococcus strains to penicillin and the use of steroids were not associated significantly with the mortality rate. CONCLUSIONS: Pneumococcal meningitis remains a devastating childhood disease. Two variables were independently associated with the in-hospital death in our series (high Pediatric Risk of Mortality score, and the use of mechanical ventilation). According to these data we may recommend the inclusion of vaccination against streptococcus pneumonia in the children's immunization program in Tunisia.

Adolescent↗

[Gillespie syndrome: 2 familial cases].

We report 2 familial cases of Gillespie syndrome in an 8-year-old girl and her brother 16 months old. They had both congenital aniridia, cerebellar ataxia and mental retardation. In the girl, pupillar dilation in the 2 eyes and delay in different milestones development were elicited at 2 years. She was summoned at the birth of her brother that had pronounced floppiness and the same ocular abnormalities. Ophtalmological exam confirmed partial and bilateral aniridia in both sibs. Brain MRI showed vermis atrophy in the girl and an hypoplasic inferior vermis in her brother. Apropos of these case reports, we make a brief update about this extremely rare genetic syndrome.

Brain↗

[Imaging of acute cerebellitis in children. Report of 4 cases].

Acute cerebellitis is one of the main causes of acute cerebellar dysfunction in children. It is either infectious, usually viral, post-infectious or post vaccinal in etiology. Diagnosing acute cerebellitis may be difficult in patients with only subtle cerebellar signs and when cerebro-spinal fluid examination is normal. MRI is the most adequate imaging technique to demonstrate cerebellar involvement. The authors report the clinical and neuro-imaging findings in 4 paediatric cases. Patient's age varied from 2 to 7 years and predominant clinical symptoms were fever, headache and vomiting; ataxia was noted only in 2 cases. Viral serologic tests were negative in 3 cases and demonstrated Epstein-Barr virus in 1. Initial MRI examination (2 cases) demonstrated increased intensity on T2W and Flair sequences of the cerebellar gray matter with pial enhancement. Clinical outcome was good with complete resolution of symptoms in 3 cases and persistent mild right upper limb paresis in one. The resolution of the signal abnormality was well demonstrated on MRI in one case, suggesting an inflammatory etiology with moderate residual cerebellar atrophy.

Acute Disease↗

[Cerebral hydatid disease: imaging features].

Cerebral hytatid cysts (HC) are extremely rare, forming 2% of all intra cranial space occupying lesions even in counties where the disease is endemic. HC diagnosis is usually based on a pathognomonic computed tomography (CT) pattern. In order to assess the value of MR we reviewed the CT (n=25) and magnetic resonance (MR, n=4 including diffusion and proton magnetic resonance spectroscopy in 1) imaging of 25 patients with pathologically confirmed cerebral hydatid disease. 19 HC were seen in children under 16 years. All were supra tentorial with 22 in the middle cerebral artery territory. HC was solitary in 18 cases, unilocular in 23 and multi-vesicular in 2 with heavily calcified pericyst in 1. 2 cysts were intra ventricular and 1 intra aqueducal. The most typical features were well defined, smooth thin walled spherical or oval cystic lesions of CSF density and/or signal with considerable mass effect (20/25). Surrounding oedema with complete or incomplete rim enhancement was seen in 3 cases which were labelled as complicated and/or infected cysts. Although CT is diagnostic of hydatid disease in almost all cases (22/25), MRI including diffusion and spectroscopy precisely demonstrate location, number, cyst capsule, type of signal and enhancement and allows diagnosis of atypical or complicated HC and appears more helpful in surgical planning.

Adolescent↗

Ambulatory inguinal hernia repair with prolene hernia system (PHS).

Study was conducted to evaluate the feasibility and benefits of inguinal hernia repair with prolene hernia system (PHS) mesh under local anaesthesia as a day surgery procedure in a multinational society of United Arab Emirates. One hundred and seventy-eight inguinal hernias in 172 consecutive adults of whom 154 (89.5%) fitted the criteria of inclusion in the day-case surgery settings were operated upon including one early recurrence. Conversion from local to general anaesthesia was required in five (2.8%) patients. The mean operation time was 65 min, including the anaesthesia injection. The mean hospital stay was 2.1 days for all patients and 1.01 days for those who fitted in the ambulatory surgery program. Inguinal hernia repair using the PHS technique under local anaesthesia could be mastered by many of the surgeons in our hospital with minimal morbidity and short hospital stay with a potential to lessen recurrence.

Adolescent↗

[Ischemic colitis and hemophagocytosis complicating Kawasaki disease].

UNLABELLED: Gastrointestinal manifestations of Kawasaki disease are usually limited to stomatitis, paralytic ileus, and hydrops of the gallbladder. We report a case of Kawasaki disease complicated with hemophagocytosis and ischemic colitis. CASE REPORT: A 5-year-old girl with Kawasaki disease presented with hemophagocytosis that responded to gamma-globulin therapy. On day 4 she had abdominal pain and diarrhea. CT scan showed features suggesting ischemic colitis. Symptoms resolved on total parenteral nutrition. CONCLUSION: Ischemic colitis and hemophagocytosis are potential severe complications of Kawasaki disease.

Child, Preschool↗

[Gaucher's disease in Tunisia (multicenter study)].

UNLABELLED: Gaucher's disease is one of the rare lysosomial disease that could receive substitutive enzymatic treatment which may improve considerably the prognosis of certain forms. The purpose of this work is to study the epidemiology of the disease in Tunisia, to highlight the diagnostic and therapeutic difficulties and also to precise our subsequent needs for substitutive medication. PATIENTS AND METHODS: We have conducted a retrospective survey of the hospital wards that were susceptible to take care of patients having Gaucher's disease. These wards are the paediatric, neonatology, internal medicine, haematology, neurology and cardiology wards. RESULTS: In this study we have observed 27 cases of Gaucher's disease over a period of 18 years (1983-2001). The age at onset ranges from birth to 73 years of age, with an average age of 14.5 years. According to the age at onset and the clinical presentation, we classify our patients into: 20 cases of type 1 (74%), three cases of type 2 (12%), and three cases of type 3 (12%), and one case of unspecified type.Gaucher's disease type 1: The age at onset ranged from 10 months to 73 years with an average of 19 years. The main clinical signs that we have observed were splenomegaly, hepatomegaly, pallor, haemorrhagic appearance and also osteoporosis and bone pain observed in 40% of the cases. The diagnosis was based on histology showing the Gaucher's cells in various tissues while the diagnosis obtained by the dosage of glucocerebrosidase took place only in 50% of the cases. The treatment has always been symptomatic (analgesics, transfusion). A splenectomy was performed in 47% of the cases and none of the patients received a specific treatment. The follow-up period ranged from 1 month to 18 years with an average follow-up of 4 years. Among the 12 patients having a follow-up of at least 1 year, we have noticed an improvement after splenectomy in three cases, a stability in three cases and two worsening cases dealing mainly with bone problems. One patient aged 73 died from respiratory problem and three were lost to follow-up. Gaucher's disease type 2: We have observed three cases of Gaucher's disease type 2 diagnosed at 1 day, 45 days and 3 months of age. The visceral manifestations were serious and the neurological features included seizures, hypertony, ocular-nerve palsies and psychometric decline. The three patients died. Gaucher's disease type 3: Three patients were probably suffering from Gaucher's disease type 3 with visceral manifestations observed at the ages of 9 months, 1 year and 3 years, and also neurological signs observed at respective ages of 2.5 and 3 years. Two patients died and the remaining one was lost to follow-up. CONCLUSION: Gaucher's disease is not exceptional in Tunisia. Type 1 is by far the most common one. We have noticed some insufficiency in the diagnosis as the glucocerebrosidase enzymatic dosage was performed only in 50% of the cases as well as therapeutic insufficiency with no prescription of the specific treatment.

Adolescent↗

Role of hyperhomocysteinemia in aortic disease.

A growing body of evidence has shown a strong association between elevated plasma homocysteine (Hcy) levels with vascular disease and thrombotic complications. Data available in literature also suggest a role of hyperhomocysteinemia in abdominal and thoracic aortic diseases. In particular, Hcy was investigated in patients with Marfan syndrome and it was demonstrated that Hcy levels were associated with the risk of severe cardiovascular manifestations or dissection. Hcy was significantly higher also in patients with abdominal aortic aneurysms and was associated with the size of aneurysms. It remains to be elucidated if this association is causal or simply an effect of the disease. A number of mechanisms may be evoked to explain these findings. Studies in animal models demonstrated that hyperhomocysteinemia could induce marked remodelling of the extracellular matrix of the arterial wall by inducing elastolysis through the activation of metalloproteinases. In addition, Hcy may directly affect fibrillin-1 or collagen by interfering with intra- and/or inter-molecular disulfide bonds through disulfide exchange, or binding to free sulphydryl groups. Further studies are needed to confirm the role of Hcy in aortic disease and the usefulness of including Hcy determination in the clinical evaluation of these patients.

Aged↗

Labial fusion causing urinary incontinence in a postmenopausal female: a case report.

Urinary incontinence is not described in the literature as the presenting symptom of labial fusion. This report discusses a 72-year-old postmenopausal woman who presented with complaints of urinary incontinence and was diagnosed to have complete labial fusion. Following failure of conservative treatment with topical estrogen cream a surgical separation of the fusion was performed. The surgical therapy alleviated all incontinence symptoms.

Aged↗

[Aicardi syndrome with favorable outcome].

BACKGROUND: Aicardi syndrome is usually associated with a very poor outcome. CASE REPORT: We report a particular case of Aicardi syndrome characterised by a partial agenesis of the corpus callosum associated with an arachnoidal interhemispheric cystic formation, and by a complete control of epilepsy and a favorable outcome regarding visual and psychomotor performances. CONCLUSION: A better prognosis could be expected in Aicardi syndrome when spasms occur lately and are not preceded by partial seizures, when agenesis of corpus callosum is partial and especially when chorioretinal lacunae are small, isolated, few and spare the macula.

Agenesis of Corpus Callosum↗

Time-related changes in pulmonary function after conversion to tacrolimus in bronchiolitis obliterans syndrome.

BACKGROUND: Bronchiolitis obliterans syndrome (BOS) is a leading cause of morbidity and mortality after lung and heart-lung transplantation. Present treatment is directed at the augmentation of pharmacologic immunosuppression. METHODS: This study examines the effect of substituting cyclosporine with tacrolimus on the forced expiratory volume in 1 second (FEV(1)) and on the forced expiratory flow between 25% and 75% of vital capacity (FEF(25%-75%)) in 32 patients who developed BOS. The proportional rates of decline of FEV(1) and FEF(25%-75%) before and after treatment with tacrolimus were calculated. The actuarial survival of responders and non-responders to tacrolimus was compared. Pre-operative and post-operative factors were investigated to determine any difference between the 2 groups. RESULTS: There were significant reductions in the rates of decline of FEV(1) and FEF(25%-75%) when the rates in the 3 months before conversion to tacrolimus were compared with subsequent rates at 0 to 3 months, 3 to 6 months, 6 to 9 months and 9 to 12 months after conversion. The rates of decline of FEV(1) and FEF(25%-75%) in the 3 months before conversion were 0.11 liters/month and 0.13 liters/s per month, respectively. This compares with the rates of decline for FEV(1) and FEF(25%-75%) for the 3 months after conversion to tacrolimus of 0.04 liters/month (p = 0.023) and 0.04 liters/s per month (p = 0.022), respectively. The actuarial survival at 1 year from the time of conversion to tacrolimus for the responder sub-group and the non-responder sub-group were 89.2% and 75%, respectively, and at 4 years after conversion were 61.3% and 56.3%, respectively (p = 0.92). CONCLUSIONS: Tacrolimus rescue therapy is effective at stabilizing lung function in patients with BOS, and this effect is apparent up to 12 months after conversion from cyclosporine.

Bronchiolitis Obliterans↗

Basal and nitroglycerin-induced exhaled nitric oxide before and after cardiac surgery with cardiopulmonary bypass.

BACKGROUND: Exhaled nitric oxide (NO) may reflect NO production and consumption but the pulmonary origin of NO in exhaled gas is not clear. There are also conflicting data on exhaled NO after cardiopulmonary bypass (CPB). Because intravenous nitrovasodilators increase exhaled NO by conversion to NO in the lung, we measured basal and nitroglycerin (GTN)-induced exhaled NO in patients having low-risk coronary artery bypass graft (CABG) operations using routine CPB. We reasoned that GTN-induced exhaled NO would be a primarily vascular mechanism, which would contrast with the airway epithelial origin of basal exhaled NO, and that they might be differentially influenced by CPB. METHODS: Breath-to-breath concentrations of gas phase NO were measured in 12 CABG patients before and 1, 3 and 6 h after CPB. After the baseline measurements, three increasing doses of 1, 2 and 3 micro g kg(-1) intravenous GTN were given by a central venous catheter and exhaled NO and haemodynamic responses were recorded. RESULTS: Intravenous administration of 1, 2 and 3 micro g kg(-1) doses of GTN produced a dose-dependent increase in exhaled NO and a reduction in systemic blood pressure. Baseline exhaled NO remained unchanged. Exhaled NO but not blood pressure responses were reduced 1 and 3 h after CPB. CONCLUSIONS: The capacity of the lungs to increase exhaled NO in response to intravenous GTN is reduced after CPB, suggesting microvascular injury and/or atelectasis after routine open-heart surgery.

Aged↗

[Isolated pleural metastases from an atypical meningioma].

INTRODUCTION: Less than 2 per 1,000 meningiomas are complicated by extra-cranial metastases. These are most often found in the lung parenchyma, liver or lymph nodes. They almost always occur in anaplastic meningiomas (grade III according to OMS) and much more rarely in atypical meningiomas (grade II). CASE REPORT: We report a case of pleural metastases from a primary frontal atypical meningioma with no other extra-cranial spread. CONCLUSION: Poorly differentiated meningioma presents many morphological and immuno-histochemical similarities to malignant mesothelioma. For this reason the diagnosis of pleural metastase from a meningioma cannot be made without knowledge of the primary meningeal tumour and its histological type.

Aged↗

[Familial hypertrophic cardiomyopathy associated with Wolff-Parkinson-White syndrome revealing type II glycogenosis].

UNLABELLED: Symptoms of the late infantile form of type II glycogen storage disease are mainly due to functional impairment of skeletal muscle. Cardiac muscle can be involved in the late stage of the disease. CASE REPORT: We report the cases of two siblings seven and 12 years old with type II glycogen storage disease. The initial symptoms were hypertrophic cardiomyopathy with Wolf-Parkinson-White syndrome. CONCLUSION: Hypertrophic cardiomyopathy may be the form of presentation of the late infantile form of type II glycogen storage disease. The risk of sudden death is high.

Age Factors↗

Primary antiphospholipid syndrome presenting as complicated Henoch-Schönlein purpura.

A child showing signs of Henoch-Schönlein purpura developed a right tibiofibular vascular thrombosis. Antiphospholipid antibody tests were positive for both lupus anticoagulant and anticardiolipin antibodies. This suggests that an antiphospholipid syndrome should be considered in cases of Henoch-Schönlein purpura and antiphospholipid antibodies should be measured to determine whether prophylactic antithrombotic measures are needed to prevent thrombotic manifestations.

Amputation, Surgical↗

Their last words: a review of suicide notes in the elderly.

Suicide notes are considered as markers of the severity of a suicide attempt and are said to provide valuable insight into the thinking of suicide victims before the fatal act. However, very few studies have described elderly suicide note-writers and their final thoughts. In this retrospective review of suicide notes obtained from coroners' records in North Cheshire over a period of 13 years from 1989-2001 we examined the content of suicide notes and their clinical significance. Suicide note-writers may not be typical of the average suicide and information elicited from the study of suicide notes may only apply to note-writers and not to suicide in general. However, the absence of a suicide note must not be considered an indicator of a less serious attempt. Future studies of suicide notes need to provide insight into the unique nature of these documents and to allow better understanding of the suicidal mind.

Aged↗