Vitamin D deficiency could be due to decreased bioavailability (decreased intake or exposure to s... more Vitamin D deficiency could be due to decreased bioavailability (decreased intake or exposure to sunlight, urinary loss or malabsorption), abnormal metabolism (liver disease, renal disease) or abnormal target tissue response (vitamin D resistant or gastrointestinal disorders). Vitamin D deficiency is one of the causes of osteomalacic myopathy. To highlight the clinical and laboratory characteristics of vitamin D deficiency myopathy in Egypt and to discuss its therapeutic implications. All patients presented with gradual progressive limb-girdle weakness with or without bony pains, pains of limb muscles, low backache or joint pains. All patients had detailed clinical assessment, laboratory study (including serum calcium, phosphorus, alkaline phosphatase, total creatine kinase, parathyroid hormone and 25 (OH) vitamin D levels together with neurophysiological study and muscle biopsy in some cases. 30 patients were found to have vitamin D deficiency myopathy. Most of them were females, adolescents or early adults. Decreased dairy intake and decreased exposure to sunlight were the main causes for their illness. Most of them had stereotyped clinical presentation with marked deficiency of serum calcium, increased serum phosphorus and increased alkaline phosphatase levels. Parathyroid hormone serum level was high and vitamin D serum level was low. Muscle biopsy showed non-specific myopathic changes in studied specimens. Therapy with a combination of daily calcium and vitamin D intake greatly improve both pains and weakness within few months of all patients. Vitamin D deficiency myopathy is a common condition among females in Egypt due to decreased dairy intake and exposure to sunlight. Clinicians must take attention to this type of myopathy as it is a treatable myopathy.
Background Children with Duchenne muscular dystrophy report a higher rate of cognitive and psychi... more Background Children with Duchenne muscular dystrophy report a higher rate of cognitive and psychiatric disorders relative to general population. This study will describe and compare the psychiatric and cognitive problems in DMD patients with healthy controls. Results A statistically significant difference was found between the case and control groups regarding Total IQ (TIQ) with a mean of (82 ± 16) in cases compared to (94 ± 10) in controls, in which 58% of DMD boys had <90 TIQ and 40% less than 70. We also found that 58% of cases have delayed onset of speech, 38% have attention-deficit/hyperactivity disorder, 6% have autism spectrum disorder, 14% have anxiety disorders, and 22% have major depressive disorder. Ninety-two percent of cases had deletion mutations. Conclusions According to our results, we conclude that boys with DMD had a lower Total IQ and higher rate of psychiatric disorders than the general population. Also, school attendance and speech development are more affec...
Study Objectives: Guillain-Barre syndrome (GBS) is an acute-onset, monophasic immune-mediated dis... more Study Objectives: Guillain-Barre syndrome (GBS) is an acute-onset, monophasic immune-mediated disorder of the peripheral nervous system that often follows an infection. The outcome and prognosis of GBS depend on many factors such as the etiology, clinical features, neurophysiology and immunological parameters. The aim of this study was to assess the factors (clinical, investigatory tools, and therapies) that may affect the outcome of patients with GBS. Patients and methods: this was an analytical observational study that was conducted at Ain Shams university hospitals and Kobri Elkoba Military Hospital including twenty patients with the diagnosis of Guillain Barre Syndrome in the duration from 2016 to 2018. This study included twenty patients with the diagnosis of GBS within two weeks from onset of neurologic symptoms, whom their diagnosis based on the established clinical criteria and verified by investigations. Patients were selected from both genders and aged from 18 to 65 years ...
Background Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease represen... more Background Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease representing the most prevalent monogenic cause of infant mortality. It results from the loss of SMN1 gene, but retention of its paralog SMN2 whose copy number can modulate the disease severity and guide the therapeutic regimen. Methods For SMA molecular analysis, 236 unrelated Egyptian patients were enrolled at our institution. The Multiplex ligation-dependent probe amplification analysis (MLPA) was applied to investigate the main genetic defect in the enrolled patients (SMN1 loss) and to determine a possible genotype–phenotype correlation between the copy number of other genes in the SMN locus (5q13.2) and disease severity in Egyptian patients with SMA. A small cohort of healthy subjects (n = 57) was also included to investigate the possible differences in the distributions of SMN2 and NAIP genes between patients and healthy individuals. Results Disease diagnosis was confirmed in only 148 pati...
Background Ataxia (GK Taxis mean lack of orders) is defined by imbalance in coordination in gait,... more Background Ataxia (GK Taxis mean lack of orders) is defined by imbalance in coordination in gait, limbs and speech. It usually results from disorders in cerebellum or its connections. It is disorder of rate, range, direction and force of movements. Aim of the Work to investigate and identify the prevalence of hereditary ataxias regarding clinical and radiological. Subjects and Methods our study is composed of 23 patients, (their age range from 15 years old to 40 years old).We study the effect of positive family history and consanguinity on the prevalence of hereditary ataxias. We assess patients functionally using SARA score. Results there was positive relationship between positive family history and consanguinity and appearance of disease in cases so, it is important to ask about family history, similar condition and do family pedigree to know mode of inheritance if possible. Also, we found positive correlation between duration of disease and SARA score. There was positive correlat...
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases, 2007
Large variations in the proportion of intragenic deletion in the dystrophin gene have been observ... more Large variations in the proportion of intragenic deletion in the dystrophin gene have been observed in different populations. Although dystrophin gene deletion was extensively studied all over the world, only few studies were done on Egyptian population and there was no account on the dystrophin gene duplication. In this study, we present our results on the pattern of deletion of the dystrophin gene together with the usage of quantitative polymerase chain reaction (PCR) as a method for duplication analysis within the dystrophin gene in Egyptian patients. Forty one Duchene/Becker muscular dystrophy patients were included in this study. The diagnosis was based on detailed clinical assessment, serum creatine kinase (CK) level, neurophysiologic study and muscle biopsy for histopathological analysis. DNA was extracted from ten milliliter peripheral blood according to basic protocol, and multiplex polymerase chain reaction for dystrophin gene using both Chamberlin and Beggs sets of primer...
Background The dose–effect of various SOD1 mutations on SOD1 enzymatic activity offers valuable i... more Background The dose–effect of various SOD1 mutations on SOD1 enzymatic activity offers valuable insights into ALS pathogenesis with possible therapeutic implications. Homozygous SOD1 mutations, yet scarce, are of special interest. We report a novel homozygous SOD1 mutation with decreased enzymatic activity and severe early onset ALS phenotype. Methods Whole exome sequencing and targeted screening of commonly implicated genes were conducted. Repeat-primed PCR and fragment length analysis were used for C9orf72. Bi-directional Sanger sequencing was used for SOD1 and other genes. SOD1 activity was measured by direct spectrophotometry. Serum neurofilament light chain level was measured by the ELLA immunoassay system. Results The homozygous patient for a novel SOD1 variant p.Ser69Pro showed poor SOD1 enzymatic activity (16% of controls) and an early onset ALS phenotype predominantly affecting lower motor neurons with rapid involvement of the trunk, upper limbs and bulbar muscles. The asym...
Background Amyotrophic lateral sclerosis (ALS) is the most common, fatal adult neuromuscular dise... more Background Amyotrophic lateral sclerosis (ALS) is the most common, fatal adult neuromuscular disease. It is a multi-system disorder characterized primarily by motor manifestations, but there is established evidence for cognitive and behavioral impairment, which is associated with poor prognosis, hence, the importance of tools for its assessment. The Edinburgh Cognitive and Behavioral Assessment Screen (ECAS) is an invaluable assessment tool for cognition in ALS-front temporal spectrum dementia (FTSD), as it accommodates physical challenges that usually confound traditional neuropsychological testing in those patients. Objective and methods To validate the Egyptian Arabic version of ECAS (ECAS-EG) based on the original English scale. This is a prospective study. The ECAS was adapted and administered to 62 Egyptian ALS patients and 60 healthy controls. Patients were recruited from the Neuromuscular Unit, Ain Shams University Hospital. The ECAS was adapted to Egyptian Arabic after bein...
Congenital myasthenic syndromes (CMS) are inherited disorders that lead to abnormal neuromuscular... more Congenital myasthenic syndromes (CMS) are inherited disorders that lead to abnormal neuromuscular transmission. Post-synaptic mutations are the main cause of CMS, particularly mutations in CHRNE. We report a novel homozygous CHRNE pathogenic variant in two Egyptian siblings showing a CMS. Interestingly, they showed different degrees of extraocular and skeletal muscle involvement; both presented only a partial response to cholinesterase inhibitors, and rapidly and substantially ameliorated after the addition of oral β2 adrenergic agonists. Here, we enlarge the genetic spectrum of CHRNE-related congenital myasthenic syndromes and highlight the importance of a β2 adrenergic agonists treatment.
OBJECTIVE This study aims to investigate the genetic predisposition of haptoglobin (Hp) genotype ... more OBJECTIVE This study aims to investigate the genetic predisposition of haptoglobin (Hp) genotype as a predictor for cerebral vasospasm (CV) after acute subarachnoid hemorrhage (aSAH) in the Egyptian population. This permits CV risk factors stratification of patients with aSAH. Hence, it will guide the treatment plan and intensive monitoring for those patients. PATIENTS AND METHODS The study was carried out at El Matareya Teaching Hospital, Cairo, Egypt. We studied 50 patients with aSAH who were prospectively recruited and followed up by transcranial Doppler (TCD) examination for 14 days following aneurysmal rupture to early detect hemodynamic changes associated with CV and also the occurrence of delayed cerebral ischemia (DCI) as a secondary outcome. In this study, we attempted to analyze Hp genotyping as a potential predictor of CV and DCI during the acute phase of aneurysmal SAH. RESULTS As a part of result analyses, among studied patients, 34 patients (68 %) developed CV and 19 patients (38 %) developed DCI. Only history of hypertension [RR = 1.6 (OR = 4)], diabetes mellitus [RR = 1.5 (OR = 3.4)] and smoking [RR = 1.5 (OR = 3.6)] had a significant independent relationship (P < 0.05) with short term risk to develop CV following aSAH. While, Age, sex, hyperlipidemia, cardiovascular disease and peripheral vascular disease, intracranial aneurysm site and size did not achieve significant association for developing CV. Regarding the poor Fisher scale and poor Hunt and Hess score both showed significant association with CV (P < 0.05). Genotyping of Hp protein among our study cohort revealed that the relative distribution of the three haptoglobin genotypes (Hp1-1, HP2-I & HP2-2) among Egyptian patients of aSAH was 14 %, 40 % and 46 %, respectively; (gene proportion being 0.34 for Hp1 and 0.66 for Hp2). Furthermore; Hp 2 allele was associated with radiographic vasospasm detected by TCD among the studied patients (2-2 & 2-1 Vs 1-1: RR = 5.4, OR = 19.8, P < 0.001). In the regression model; Hp genotype expressing Hp-2 allele is predictive for higher risk of development of CV after aSAH. Moreover, searching for the relationship between CV & Hp genotype and the risk for development of DCI; both variables failed to achieve a significant relationship for DCI (P > 0.05). CONCLUSION The Hp genotype may determine the susceptibility to cerebral vasospasm after acute aSAH. This has the potential for use in risk stratification by allowing for the identification of those patients requiring intensive monitoring due to their inherent genetic risk for developing CV allowing for the promising selective application of aggressive treatments to those patients.
Vitamin D deficiency could be due to decreased bioavailability (decreased intake or exposure to s... more Vitamin D deficiency could be due to decreased bioavailability (decreased intake or exposure to sunlight, urinary loss or malabsorption), abnormal metabolism (liver disease, renal disease) or abnormal target tissue response (vitamin D resistant or gastrointestinal disorders). Vitamin D deficiency is one of the causes of osteomalacic myopathy. To highlight the clinical and laboratory characteristics of vitamin D deficiency myopathy in Egypt and to discuss its therapeutic implications. All patients presented with gradual progressive limb-girdle weakness with or without bony pains, pains of limb muscles, low backache or joint pains. All patients had detailed clinical assessment, laboratory study (including serum calcium, phosphorus, alkaline phosphatase, total creatine kinase, parathyroid hormone and 25 (OH) vitamin D levels together with neurophysiological study and muscle biopsy in some cases. 30 patients were found to have vitamin D deficiency myopathy. Most of them were females, adolescents or early adults. Decreased dairy intake and decreased exposure to sunlight were the main causes for their illness. Most of them had stereotyped clinical presentation with marked deficiency of serum calcium, increased serum phosphorus and increased alkaline phosphatase levels. Parathyroid hormone serum level was high and vitamin D serum level was low. Muscle biopsy showed non-specific myopathic changes in studied specimens. Therapy with a combination of daily calcium and vitamin D intake greatly improve both pains and weakness within few months of all patients. Vitamin D deficiency myopathy is a common condition among females in Egypt due to decreased dairy intake and exposure to sunlight. Clinicians must take attention to this type of myopathy as it is a treatable myopathy.
Background Children with Duchenne muscular dystrophy report a higher rate of cognitive and psychi... more Background Children with Duchenne muscular dystrophy report a higher rate of cognitive and psychiatric disorders relative to general population. This study will describe and compare the psychiatric and cognitive problems in DMD patients with healthy controls. Results A statistically significant difference was found between the case and control groups regarding Total IQ (TIQ) with a mean of (82 ± 16) in cases compared to (94 ± 10) in controls, in which 58% of DMD boys had <90 TIQ and 40% less than 70. We also found that 58% of cases have delayed onset of speech, 38% have attention-deficit/hyperactivity disorder, 6% have autism spectrum disorder, 14% have anxiety disorders, and 22% have major depressive disorder. Ninety-two percent of cases had deletion mutations. Conclusions According to our results, we conclude that boys with DMD had a lower Total IQ and higher rate of psychiatric disorders than the general population. Also, school attendance and speech development are more affec...
Study Objectives: Guillain-Barre syndrome (GBS) is an acute-onset, monophasic immune-mediated dis... more Study Objectives: Guillain-Barre syndrome (GBS) is an acute-onset, monophasic immune-mediated disorder of the peripheral nervous system that often follows an infection. The outcome and prognosis of GBS depend on many factors such as the etiology, clinical features, neurophysiology and immunological parameters. The aim of this study was to assess the factors (clinical, investigatory tools, and therapies) that may affect the outcome of patients with GBS. Patients and methods: this was an analytical observational study that was conducted at Ain Shams university hospitals and Kobri Elkoba Military Hospital including twenty patients with the diagnosis of Guillain Barre Syndrome in the duration from 2016 to 2018. This study included twenty patients with the diagnosis of GBS within two weeks from onset of neurologic symptoms, whom their diagnosis based on the established clinical criteria and verified by investigations. Patients were selected from both genders and aged from 18 to 65 years ...
Background Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease represen... more Background Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease representing the most prevalent monogenic cause of infant mortality. It results from the loss of SMN1 gene, but retention of its paralog SMN2 whose copy number can modulate the disease severity and guide the therapeutic regimen. Methods For SMA molecular analysis, 236 unrelated Egyptian patients were enrolled at our institution. The Multiplex ligation-dependent probe amplification analysis (MLPA) was applied to investigate the main genetic defect in the enrolled patients (SMN1 loss) and to determine a possible genotype–phenotype correlation between the copy number of other genes in the SMN locus (5q13.2) and disease severity in Egyptian patients with SMA. A small cohort of healthy subjects (n = 57) was also included to investigate the possible differences in the distributions of SMN2 and NAIP genes between patients and healthy individuals. Results Disease diagnosis was confirmed in only 148 pati...
Background Ataxia (GK Taxis mean lack of orders) is defined by imbalance in coordination in gait,... more Background Ataxia (GK Taxis mean lack of orders) is defined by imbalance in coordination in gait, limbs and speech. It usually results from disorders in cerebellum or its connections. It is disorder of rate, range, direction and force of movements. Aim of the Work to investigate and identify the prevalence of hereditary ataxias regarding clinical and radiological. Subjects and Methods our study is composed of 23 patients, (their age range from 15 years old to 40 years old).We study the effect of positive family history and consanguinity on the prevalence of hereditary ataxias. We assess patients functionally using SARA score. Results there was positive relationship between positive family history and consanguinity and appearance of disease in cases so, it is important to ask about family history, similar condition and do family pedigree to know mode of inheritance if possible. Also, we found positive correlation between duration of disease and SARA score. There was positive correlat...
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases, 2007
Large variations in the proportion of intragenic deletion in the dystrophin gene have been observ... more Large variations in the proportion of intragenic deletion in the dystrophin gene have been observed in different populations. Although dystrophin gene deletion was extensively studied all over the world, only few studies were done on Egyptian population and there was no account on the dystrophin gene duplication. In this study, we present our results on the pattern of deletion of the dystrophin gene together with the usage of quantitative polymerase chain reaction (PCR) as a method for duplication analysis within the dystrophin gene in Egyptian patients. Forty one Duchene/Becker muscular dystrophy patients were included in this study. The diagnosis was based on detailed clinical assessment, serum creatine kinase (CK) level, neurophysiologic study and muscle biopsy for histopathological analysis. DNA was extracted from ten milliliter peripheral blood according to basic protocol, and multiplex polymerase chain reaction for dystrophin gene using both Chamberlin and Beggs sets of primer...
Background The dose–effect of various SOD1 mutations on SOD1 enzymatic activity offers valuable i... more Background The dose–effect of various SOD1 mutations on SOD1 enzymatic activity offers valuable insights into ALS pathogenesis with possible therapeutic implications. Homozygous SOD1 mutations, yet scarce, are of special interest. We report a novel homozygous SOD1 mutation with decreased enzymatic activity and severe early onset ALS phenotype. Methods Whole exome sequencing and targeted screening of commonly implicated genes were conducted. Repeat-primed PCR and fragment length analysis were used for C9orf72. Bi-directional Sanger sequencing was used for SOD1 and other genes. SOD1 activity was measured by direct spectrophotometry. Serum neurofilament light chain level was measured by the ELLA immunoassay system. Results The homozygous patient for a novel SOD1 variant p.Ser69Pro showed poor SOD1 enzymatic activity (16% of controls) and an early onset ALS phenotype predominantly affecting lower motor neurons with rapid involvement of the trunk, upper limbs and bulbar muscles. The asym...
Background Amyotrophic lateral sclerosis (ALS) is the most common, fatal adult neuromuscular dise... more Background Amyotrophic lateral sclerosis (ALS) is the most common, fatal adult neuromuscular disease. It is a multi-system disorder characterized primarily by motor manifestations, but there is established evidence for cognitive and behavioral impairment, which is associated with poor prognosis, hence, the importance of tools for its assessment. The Edinburgh Cognitive and Behavioral Assessment Screen (ECAS) is an invaluable assessment tool for cognition in ALS-front temporal spectrum dementia (FTSD), as it accommodates physical challenges that usually confound traditional neuropsychological testing in those patients. Objective and methods To validate the Egyptian Arabic version of ECAS (ECAS-EG) based on the original English scale. This is a prospective study. The ECAS was adapted and administered to 62 Egyptian ALS patients and 60 healthy controls. Patients were recruited from the Neuromuscular Unit, Ain Shams University Hospital. The ECAS was adapted to Egyptian Arabic after bein...
Congenital myasthenic syndromes (CMS) are inherited disorders that lead to abnormal neuromuscular... more Congenital myasthenic syndromes (CMS) are inherited disorders that lead to abnormal neuromuscular transmission. Post-synaptic mutations are the main cause of CMS, particularly mutations in CHRNE. We report a novel homozygous CHRNE pathogenic variant in two Egyptian siblings showing a CMS. Interestingly, they showed different degrees of extraocular and skeletal muscle involvement; both presented only a partial response to cholinesterase inhibitors, and rapidly and substantially ameliorated after the addition of oral β2 adrenergic agonists. Here, we enlarge the genetic spectrum of CHRNE-related congenital myasthenic syndromes and highlight the importance of a β2 adrenergic agonists treatment.
OBJECTIVE This study aims to investigate the genetic predisposition of haptoglobin (Hp) genotype ... more OBJECTIVE This study aims to investigate the genetic predisposition of haptoglobin (Hp) genotype as a predictor for cerebral vasospasm (CV) after acute subarachnoid hemorrhage (aSAH) in the Egyptian population. This permits CV risk factors stratification of patients with aSAH. Hence, it will guide the treatment plan and intensive monitoring for those patients. PATIENTS AND METHODS The study was carried out at El Matareya Teaching Hospital, Cairo, Egypt. We studied 50 patients with aSAH who were prospectively recruited and followed up by transcranial Doppler (TCD) examination for 14 days following aneurysmal rupture to early detect hemodynamic changes associated with CV and also the occurrence of delayed cerebral ischemia (DCI) as a secondary outcome. In this study, we attempted to analyze Hp genotyping as a potential predictor of CV and DCI during the acute phase of aneurysmal SAH. RESULTS As a part of result analyses, among studied patients, 34 patients (68 %) developed CV and 19 patients (38 %) developed DCI. Only history of hypertension [RR = 1.6 (OR = 4)], diabetes mellitus [RR = 1.5 (OR = 3.4)] and smoking [RR = 1.5 (OR = 3.6)] had a significant independent relationship (P < 0.05) with short term risk to develop CV following aSAH. While, Age, sex, hyperlipidemia, cardiovascular disease and peripheral vascular disease, intracranial aneurysm site and size did not achieve significant association for developing CV. Regarding the poor Fisher scale and poor Hunt and Hess score both showed significant association with CV (P < 0.05). Genotyping of Hp protein among our study cohort revealed that the relative distribution of the three haptoglobin genotypes (Hp1-1, HP2-I & HP2-2) among Egyptian patients of aSAH was 14 %, 40 % and 46 %, respectively; (gene proportion being 0.34 for Hp1 and 0.66 for Hp2). Furthermore; Hp 2 allele was associated with radiographic vasospasm detected by TCD among the studied patients (2-2 & 2-1 Vs 1-1: RR = 5.4, OR = 19.8, P < 0.001). In the regression model; Hp genotype expressing Hp-2 allele is predictive for higher risk of development of CV after aSAH. Moreover, searching for the relationship between CV & Hp genotype and the risk for development of DCI; both variables failed to achieve a significant relationship for DCI (P > 0.05). CONCLUSION The Hp genotype may determine the susceptibility to cerebral vasospasm after acute aSAH. This has the potential for use in risk stratification by allowing for the identification of those patients requiring intensive monitoring due to their inherent genetic risk for developing CV allowing for the promising selective application of aggressive treatments to those patients.
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