Indicators of apoptosis in Duchenne muscular dystrophy patients

Tissue sections of dystrophic muscle demonstrate apoptotic myonuclei in degenerating muscle fibers of Duchene muscle dystrophy [DMD] patients. The apoptosis cascade can be triggered by 2 main pathways, via an intrinsic, endogenous system such as the mitochondrial Bax/Bcl-2 or via an extrinsic system involving transmembrane receptors of the death receptor family Fas and Fas Ligand [FasL]. The present study is an attempt to demonstrate the levels of Fas and FasL and Bax/Bcl-2 in DMD pathogenesis. Subjects were 16 boys with DMD diagnosed clinically and at the molecular level versus 20 age and socioeconomic matching healthy boys. Plasma DNA fragmentation [0.38% +/- 0.12 vs. 0.2% +/- 0.15] and Fas [9.9 +/- 2.8 vs. 2 +/- 0.1, p < 0.001] together with FasL mRNA expression in circulating lymphocytes [0.47 +/- .09 vs. 0.24 +/- .04, p <0.001] were significantly increased in DMD patients compared to controls. There was a significant increase in Bax mRNA relative concentration [0.19 +/- 0.07 vs. 0.05 +/- 0.01, p <0.00001] accompanied by a significant decrease in Bcl-2 protein in circulating lymphocytes [6.4 +/- 1.6 vs l0 +/- 2.8, p <0.0001] both compared to controls. Indicate that apoptosis and its markers determined in blood of DMD patients can replace the invasive technique of tissue biopsy

Prevalence of malnutrition among patients on admission to a pediatric hospital

At the time of admission to the pediatric hospital of Cairo University 150 Children whose age ranged form birth to 12 years; 106 males and 44 females complaining of acute or chronic medical illness, were examined to assess their nutrition status. The aim was to know the extent of malnutrition problem among them. Their weight and length/ height were obtained as well as blood hemoglobin, serum albumin and total lymphocyte count. Most of the patients were coming from families of low socioeconomic class. The study revealed high prevalence of malnutrition and anemia together with low blood lymphocytic count. This may have predisposed to their medical illness. Hence, it is recommended to supply proper nutrition care to help limiting the period of hospital stay

Pediatric intractable epilepsy: a functional neuroimaging diagnostic challenge

This study was conducted on 39 children with intractable epilepsy. All were subjected to thorough clinical examination, EEG, MRI and interictal brain SPECT. Ictal SPECT was performed only in 13 patients. The patients were divided according to the clinical semiology of seizures into group A with generalized intractable epilepsy and group B with partial intractable epilepsy. For the whole group, the diagnostic and localizing values were 76.9% and 30.7% for EEG, 56.4% and 46.2% for MRI as well as 69.2% and 43.6% for interictal SPECT. The localizing value was higher for group B in all diagnostic modalities [75% for both MRI and interictal SPECT]. Ictal SPECT was performed for 13 patients only, it had the highest diagnostic and localizing values. It was diagnostic and localizing in seven patients in group B who performed ictal SPECT

Herpes group viruses diagnosis by polymerase chain reaction in Guillain bare syndrome and transverse myelitis

This study included 35 patients, their ages ranged from 11 months to 7 years. 20 cases presented with clinical manifestation of Guillain Barre syndrome [GBS] and 15 cases with clinical manifestations of transverse myelitis [TM]. All cases were subjected to general and neurological examinations and CSF analysis, computed tomography of dorsolumbar region for 15 cases with transverse myelitis. Polymerase chain reaction [PCR] was done for both CSF and blood of all cases for detection of cytomegalovirus-DNA, herpes simplex DNA and Epstein-Barr- DNA. Preceding illness in the form of upper respiratory infection, gastroenteritis and exanthem were detected in 65% and 39.99% among cases of GBS and TM, respectively. Total outcome among all 35 patients [8 weeks after onset of neurological manifestations] showed complete recovery in 45.71%, recovery with residual squelae in 40% and death in 14.29%. Cytomegalo-virus DNA PCR positive signal was the most commonly detected marker of viral infection in this study

Seizure pattern and EEG recording in partial epilepsy in infancy

This study included fifty children suffering from epilepsy starting below two years of age whose electroencephalographic tracing showed focal abnormalities. These cases were subjected to careful history taking, general as well as neurological examination. The etiology of seizure disorder and its clinical type were identified from medical history and clinical examination. Cases were divided into three groups: 1st group: Partial seizure both clinical and by EEG [13 cases]. 2nd group: a] Generalized seizure clinically and focal abnormalities by EEG [19 cases].b] Generalized seizure clinically and focal abnormalities by EEG [15 cases]. 3rd group: partial seizure clinically and bilateral abnormalities by EEG [3 cases]. Amongst the unilateral abnormalities of the EEG [32 cases] the focus was on the left side in 20 cases, and on the right side in 12 cases. correlation between EEG patterns in partial seizures and their clinical presentation is discussed. According to etiology, our cases were divided into two groups. The symptomatic group [29 cases] and the cryptogenic [21 cases]. Normal neurological examination was found in all cases of the cryptogenic group and in 60% of the symptomatic group [17 cases]

Clinical, biochemical and electromyographic studies in muscle diseases in infancy and childhood

The study included 49 cases suspected of having muscle disease and the initial clinical was confirmed by investigations in 42 cases [84%]. In 7 cases [14%], electromyography and enzyme studies [CPK, aldolase, L.D.H., L.D.H. isoenzymes and choline-estrase] were essential for final diagnosis. Creatinep hosphokinase levels are more markedly increase in cases of muscular dystrophy and the levels have positive correlation with the duration of the disease. Lactic dehydrogrenase showed more definite rise than serum aldolase in cases of muscular dystrophy. Serum levels over 1500 I.U/L were encountered only in cases of muscular disease as well as permitting early diagnosis. Serum choline-estrase showed no significant change in all cases and this means that is still no positive evidence of presence of a relationship between the neurotransmitter and muscle disease

Consciousness and behavioral disturbances with intracranial tumours in children

This study included 28 patients with intracranial tumors whose ages ranged from 2 to 10 years. They were subjected to thorough clinical evaluation, with special inquiry about the state of consciousness and higher cerebral functions, fundus examination, plain X-ray skull, computed axial tomography and pathological studies [in 4 cases]. Five cases were supratentorial tumors and the other 23 cases were infratentorial tumors. Only one of the cases with supratentorial tumors developed disturbances in consciousness whereas 9 cases with infratentorial tumors showed evident disturbed consciousness. Mental and behavioral changes in the form of disorientation, lack of concentration and impairment of memory, non cooperative response and disinterest to surrounding persons were present in 7 cases with infratentorial tumors. Generalized seizures were noticed in 2 infratentorial tumors. Correlation between seizures, mental symptoms and disturbed consciousness is discussed