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1.
Hum Genet ; 137(9): 753-768, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30167850

RESUMO

NALCN is a conserved cation channel, which conducts a permanent sodium leak current and regulates resting membrane potential and neuronal excitability. It is part of a large ion channel complex, the "NALCN channelosome", consisting of multiple proteins including UNC80 and UNC79. The predominant neuronal expression pattern and its function suggest an important role in neuronal function and disease. So far, biallelic NALCN and UNC80 variants have been described in a small number of individuals leading to infantile hypotonia, psychomotor retardation, and characteristic facies 1 (IHPRF1, OMIM 615419) and 2 (IHPRF2, OMIM 616801), respectively. Heterozygous de novo NALCN missense variants in the S5/S6 pore-forming segments lead to congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD, OMIM 616266) with some clinical overlap. In this study, we present detailed clinical information of 16 novel individuals with biallelic NALCN variants, 1 individual with a heterozygous de novo NALCN missense variant and an interesting clinical phenotype without contractures, and 12 individuals with biallelic UNC80 variants. We report for the first time a missense NALCN variant located in the predicted S6 pore-forming unit inherited in an autosomal-recessive manner leading to mild IHPRF1. We show evidence of clinical variability, especially among IHPRF1-affected individuals, and discuss differences between the IHPRF1- and IHPRF2 phenotypes. In summary, we provide a comprehensive overview of IHPRF1 and IHPRF2 phenotypes based on the largest cohort of individuals reported so far and provide additional insights into the clinical phenotypes of these neurodevelopmental diseases to help improve counseling of affected families.


Assuntos
Proteínas de Transporte/genética , Canalopatias/genética , Deficiências do Desenvolvimento/genética , Marcadores Genéticos , Variação Genética , Proteínas de Membrana/genética , Canais de Sódio/genética , Adolescente , Adulto , Canalopatias/patologia , Criança , Pré-Escolar , Deficiências do Desenvolvimento/patologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Fenótipo , Adulto Jovem
2.
Electron Physician ; 10(5): 6771-6774, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29997760

RESUMO

Self-inflicted eye trauma is a serious form of self-harm as it may lead to irreversible visual disability. Diagnosing self-inflicted ocular injuries, in all its forms, can be quite challenging. In this report, we are presenting a 5-year-old girl presented to Sohag University Outpatient Clinic with a history of repeated attacks of bilateral eye redness with blood-tinged strands removed from her eyes. After ocular examination, inferior bulbar conjunctival injection with blood-tinged strands were found. After careful examination of the strands, it was discovered that they were actual threads of cloth due to self-inflicted eye injury. Following psychiatric consultation, the patient was diagnosed as having a major depressive disorder. The case was subject to pharmacological and psychotherapeutic treatment, and showed significant improvement within two months of starting treatment as regard to depressive symptoms and self-injury behaviors. Although self-inflicted ocular injuries due to pediatric mood disorders are rare, it should be suspected in any case of unexplained chronic conjunctivitis.

3.
Electron Physician ; 9(9): 5287-5293, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29038711

RESUMO

BACKGROUND: Autism is currently known as "a behaviorally defined syndrome" manifested as impairment in social communication, repetitive routines and restricted interests. There is an increased risk of ASDs associated with common mutations affecting the folate/methylation cycle. AIM: The aim of this study was to identify C677T and 1298AC polymorphic genotypes of MTHFR gene among a sample of Egyptian children with autism and to make a phenotype-genotype correlation for the autistic patients. METHODS: This case-control study was carried out from 2013 through 2015. The study included 31 children with autism and 39 children in a normal control group, the mean age of patients and control was comparable (4.5 years± 2) with males predominant in both groups. We used DSM-V-TR criteria, Stanford-Binet intelligence scale V and childhood autism rating scale (CARS) for assessments. Genotyping for MTHFR gene polymorphic loci C677T and 1298AC was performed on amplified DNA by PCR with subsequent reverse hybridization and restriction fragment length polymorphisms analysis. Data were analyzed by SPSS version 11, using Chi-Square, independent-samples t-test, and ANOVA. RESULTS: There was significant relationship between low birth weight and occurrence of autism (p<0.01), and between delayed motor and social milestones in cases of autism compared to controls (p<0.01). Heterozygosity for A1298C polymorphism was highest among patients (41.9%) followed by 35.5% mutant genotype CC and 22.6% normal AA (wild) type and Allele C was detected in patients more than in control (56.45% vs. 11.54%) (p<0.001). For C667T polymorphism, heterozygosity was also highest among patients (48.4%) followed by wild type genotypes C677 (38.7%) and 12.9% for mutant genotypes 667T. Allele T appeared more in patients than control (31.10 %vs. 5.13%) (p<0.00). Heterozygosity for CT and A-C genotypes were detected equally (46.2%) among patients with severe autism (according to CARS). CONCLUSION: There is a significant association between severity and occurrence of autism with MTHFR gene polymorphisms C677T and A1298C. Further studies are needed on a larger scale to explore other genes polymorphisms that may be associated with autism, to correlate the genetic basis of autism.

4.
Electron Physician ; 9(11): 5732-5739, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29403612

RESUMO

Background: Duchenne muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy. The incidence of cardiomyopathy in DMD increases with age, so its early detection is important because institution of cardioprotective medical therapies may slow adverse remodeling and attenuate heart failure symptoms in these patients. Objective: To assess the cardiac functions in children clinically suspected to have DMD. Methods: Over a one-year period, 28 male children aged from 3 to 18 years old, who met the criteria for diagnosis of DMD compared to 47 healthy controls children, were approached to participate in the study. The included children were subjected to full clinical examination, and blood samples were collected to determine creatinine phosphokinase (CPK), troponin I enzyme, myoglobin and lactate dehydrogenase (LDH) enzyme level. Echocardiography and 12-leads electrocardiogram (ECG) were also done for children in both groups. Data were analyzed using Independent-samples t-test, Mann-Whitney U, Chi square, and Fisher's exact test. Results: The mean age of the cases group was 7.29±3.24 years versus 8.06±2.86 years for controls. In DMD group, 25% had positive family history of DMD while 35.7% of them had positive consanguinity. All cases had elevated CPK level while CPK level in controls was normal (p<0.0001). LDH level was elevated in 19 cases (67.86%) of DMD while all controls children had normal LDH level (p<0.0001). Furthermore, the mean serum myoglobin level of DMD patients was higher relative to that of healthy controls (39.39±7.25 versus 33.68 ±12.38 ng/ml respectively) (p=0.01). Echocardiography of our patients revealed that seven cases (25%) had low ejection fraction (EF) and fraction shortening (FS). In addition, all controls children had normal EF (p<0.0001) and normal FS (p<0.0001). Interestingly, ECG showed that 28.57% of cases had sinus tachycardia vs. 6.88% for controls (p=0.0001). Prolonged QTc interval was present in 39.29% of cases (mean 431.39±43.60) while all controls had normal QTc duration for age (mean of 415.17±25.2) (p<0.0001). Conclusion: ECG manifestations in children with DMD in the form of sinus tachycardia and prolonged QTc interval are an early alarm for developing cardiomyopathy before overt echocardiographic findings appear.

5.
Electron Physician ; 8(7): 2679-85, 2016 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-27648197

RESUMO

INTRODUCTION: Acute disseminated encephalomyelitis (ADEM) is an immune mediated disease of the brain. Although it occurs in all ages, most reported cases are in children and adolescents. The aims of this study were to study the clinical pattern and outcome of ADEM in children in a tertiary center in Upper Egypt and to determine the effect of combined use of steroids and IVIg on outcome. METHODS: This observational study was carried out from January 2014 through December 2014 in the Pediatric Department of Sohag University Hospital (Egypt). All children diagnosed as ADEM during a one year period were included in this study. The treatments used were IV methylprednisolone followed by oral prednisone taper and intravenous immunoglobulin for severe cases. All studied cases were followed up and reevaluated at three months and six months. We used SPSS version 10 and Chi Square, Spearman's test and t-test for data analysis. RESULTS: Eighteen children were included in this study (10 males and 8 females), the average age was 5.5 ± 0.9 years. Prodroma was found in 72.22% of the cases while the main complaint was encephalopathy (83.33%) followed by seizures (11.11%). The neurological findings were convulsions in 83.33%, quadriparesis (33.33%), hemiparesis (33.33), bladder involvement (both retention and incontinence) in 61.11%, and cranial nerve affection (11.11%). Demyelination patches were multifocal in 50%, mainly subcortical in 27.78%. Intelligence quotient (IQ) assessment after 6 months follow up showed that 50% were below average, 25% had mild MR while neurological evaluation showed that 75% of our patients were completely cured. The predictors of better outcome were; children related to the age group (1-4 years) (p = 0.01), children with higher GCS (6-14) (p = 0.01), and children who received steroids on the first day of symptoms and intravenous immunoglobulin in the first week (p = 0.03). CONCLUSION: The clinical pattern of acute disseminated encephalomyelitis is variable, and a disturbed level of consciousness was the most common presentation. The outcome is generally favorable although motor deficit and cognitive impairment were reported. The combined use of steroids and IVIg has substantial effect on the outcome in children with ADEM.

6.
Electron Physician ; 8(4): 2227-31, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27279996

RESUMO

INTRODUCTION: Breath-holding spells (BHSs) are involuntary pauses of breathing, sometimes accompanied by loss of consciousness. They usually occur in response to an upsetting or surprising situation. Breath-holding spells are usually caused by either a change in the usual breathing pattern or a slowing of the heart rate. In some children, BHSs may be related to iron deficiency anemia. The aim of the work was to study the clinical and laboratory profile of BPHs in children presented to the Neuropediatric Clinic at Sohag University Hospital. METHODS: An observational prospective study was done at Sohag University Hospital over a period of one year on children diagnosed as having BHSs by clinical history and laboratory evaluation, including complete blood count (CBC), serum iron, serum ferritin, total iron binding capacity, and Electroencephalography (EEG). RESULTS: During the period of study (one year), we reviewed data of 32 children who had been diagnosed as having BHSs. We found that cyanotic spells (71.88%) predominated over pallid spells. There were positive family histories (31.25%) and consanguinity (53.135) in the studied patients. We found a high incidence of iron deficiency anemia (62.5%) in association with BHS. Abnormal EEGs were found in (65.63%) of studied children. CONCLUSION: BHS is a common, important problem associated with iron deficiency anemia, which is, in turn, a common nutritional problem in our country.

7.
Electron Physician ; 8(4): 2255-62, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27280001

RESUMO

INTRODUCTION: Central nervous system (CNS) infections can be categorized according to the nature of the infectious pathogen into viral, bacterial, protozoan, or fungal. The diagnosis of diffuse CNS infections depends on examination of cerebrospinal fluid (CSF) obtained by lumbar puncture (LP). The aim of this work was to determine the diagnostic value of CSF analysis in infants and children presenting with fever and convulsions. METHODS: Detailed clinical data of infants and children included in this study were collected with special reference to the course and duration of the illness, description of the convulsions, consciousness level, signs of increased intracranial pressure, and signs of meningeal irritation. Lumbar puncture and chemical and bacteriological analyses of the obtained cerebrospinal fluid were done for all of the children. RESULTS: The total number of children included in the study was 85, they had a median age 19 months, and 88% of them had generalized convulsions. CSF examination revealed that 20% had abnormal physical findings, while 23.5% had abnormal white blood cell count (WBC) (CSF Pleocytosis). CSF cultures were done in three cases with the highest White blood cells (WBCs), and streptococcus pneumoniae was present in all three cases. CONCLUSION: This study found that CNS infections are not uncommon in infants and children presenting with fever and convulsions in our locality, and acute bacterial meningitis cannot be excluded. However, its presence in the absence of clinical symptoms and signs of meningeal irritation is a remote possibility, but it should always be considered.

8.
Electron Physician ; 8(12): 3318-3324, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28163843

RESUMO

INTRODUCTION: Guillain-Barré syndrome is the most common cause of acute flaccid paralysis in children, and defined as an acute inflammatory polyneuropathy. The objective of this study was to assess the clinico-laboratory profile, and outcome of Guillain-Barré syndrome in children at Sohag University Hospital. METHODS: This prospective cohort observational study was conducted in 2014-2015. The included children were subjected to through medical history and detailed systemic and neurological examination. Nerve conduction studies and cerebrospinal fluid analysis were done for all patients. Follow up was done at three and six months both clinically and by nerve conduction studies. RESULTS: This study included 50 patients (27 males/23 females) with median age of 2.92 years. Upper respiratory tract infections were the most common antecedent infections (50%) and the neurological findings were weakness of both lower limbs and pain in all patients (100%) followed by sphincteric dysfunction (26%) while cranial neuropathies were found in 4%. Nerve conduction study revealed that acute inflammatory demyelinating polyradiculoneuropathy was found in 52% of cases, acute motor axonal neuropathy in 36% of cases, whereas acute motor-sensory axonal neuropathy was found in 6% of cases. The outcome was good in about 78% of cases, Hughes motor scale revealed that 58% were healthy, 18% had minor signs or symptoms, 12% walked without support, 6% walked with support, and 6% were bed ridden. CONCLUSION: The outcome was favorable, although a minority of patients suffered neurological deficit. Immediate administration of intravenous immunoglobulin reduced mortality and disability.

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