Poor prognosis in paediatric haemorrhagic stroke

MakaleWOS:000936965000001PubMed ID: 36661106Stroke, increasingly recognised in children in recent years, is an important cause of long-term morbidity and disability. A wide range of conditions associated with paediatric stroke has been identified, which differ significantly from those in adults. Paediatric stroke can also present with a variety of symptoms and signs, both specific and non-specific [1, 2]. Paediatric haemorrhagic stroke (HS) is a rare but severe condition, with lifelong multifaceted adverse functional, psychosocial, and economic consequences [3]. In this study, we have evaluated the clinical, laboratory and neuroimaging findings in children with HS in order to draw attention to the high morbidity and mortality rates of paediatric HS. (...

Detection of Novel NF1 Variants with Next-Generation DNA Sequencing Technology and Genotype-Phenotype Characteristics of Neurofibromatosis

MakaleWOS:000925992500001Objective: Neurofibromatosis type 1 (NF1, #162200) is a common neurological disorder with de novo or inherited germline mutations of the Neurofibromin (NF1, *613113). The purpose of this study is to increase the limited knowledge of NF1 in a small population-based dataset. Materials and Methods: This study enrolled patients with clinically suspected NF1 referred to the Kayseri Training and Research Hospital, Medical Genetics Department, between 2015 and 2017. The local ethics committee approved this study. Next-generation sequencing was performed for the genetic analysis. The genetic, demographic, and clinical features of the participants were characterized. Results: A total of 79 cases of NF1 were included. Of these cases, 40 were male, and 39 were female. The mean age was 11.9 years, and most were younger than 18 years. The most common complaint was cafe au lait macules. The 61 (77.3%) patients had pathogenic variants, and 16 (26.2%) were novel. Mostly affected mutation sites were exonic regions (n=54, 88.5%). The most common mutated exon was exon 38 (n=7, 11.5%), and most of the detected mutations were nonsense mutations (31%). Conclusion: It is one of Turkiye's largest NF1 study groups, where all exons of the NF1 gene were analyzed. This study contributes novel variants to the literature. There was no mutational hotspot region, and no significant relationship between genotype and phenotype was observed. Further studies and large sample sizes are required to better understand the relationship between NF and genetic changes

Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking

Charcot-Marie-Tooth type 4 (CMT4) is an autosomal recessive severe form of neuropathy with genetic heterogeneity. CMT4B1 is caused by mutations in the myotubularin-related 2 (MTMR2) gene and as a member of the myotubularin family, the MTMR2 protein is crucial for the modulation of membrane trafficking. To enable future clinical trials, we performed a detailed review of the published cases with MTMR2 mutations and describe four novel cases identified through whole-exome sequencing (WES). The four unrelated families harbor novel homozygous mutations in MTMR2 (NM_016156, Family 1: c.1490dupC; p.Phe498IlefsTer2; Family 2: c.1479+1G>A; Family 3: c.1090C>T; p.Arg364Ter; Family 4: c.883C>T; p.Arg295Ter) and present with CMT4B1-related severe early-onset motor and sensory neuropathy, generalized muscle atrophy, facial and bulbar weakness, and pes cavus deformity. The clinical description of the new mutations reported here overlap with previously reported CMT4B1 phenotypes caused by mutations in the phosphatase domain of MTMR2, suggesting that nonsense MTMR2 mutations, which are predicted to result in loss or disruption of the phosphatase domain, are associated with a severe phenotype and loss of independent ambulation by the early twenties. Whereas the few reported missense mutations and also those truncating mutations occurring at the C-terminus after the phosphatase domain cause a rather mild phenotype and patients were still ambulatory above the age 30 years. Charcot-Marie-Tooth neuropathy and Centronuclear Myopathy causing mutations have been shown to occur in proteins involved in membrane remodeling and trafficking pathway mediated by phosphoinositides. Earlier studies have showing the rescue of MTM1 myopathy by MTMR2 overexpression, emphasize the importance of maintaining the phosphoinositides equilibrium and highlight a potential compensatory mechanism amongst members of this pathway. This proved that the regulation of expression of these proteins involved in the membrane remodeling pathway may compensate each other's loss- or gain-of-function mutations by restoring the phosphoinositides equilibrium. This provides a potential therapeutic strategy for neuromuscular diseases resulting from mutations in the membrane remodeling pathway

Lomber ponksiyon sonrası paraparezi ile belirti veren aemofili A olgusu

Besides large intra-joint bleedings that are frequently observed in Hemophilia A, bleeding may also rarely occur in spinal joints. Additional to traumatic or spontaneous hematomas, cord suppression may be occured due to various reasons such as epidural tumor and infections, myelosclerosis and bone tissue suppression that occurs to the enlargement in the bone marrow because of hemolytic anemia and thalassemia. In the present study a 6 months old male who developed paraparesis as a result of spinal compression of a hematoma that occurred after lumbar puncture and then diagnosed with Hemophilia A presented on account of the present case, our aim is to emphasize that perispinal hematoma may lead to paraparesis and that paraparesis may develop due to neurological retention that is rarely seen in children with Hemophilia A.Hemofili A da büyük eklem içi kanamalar sık görülmesinin yanısıra, nadiren spinal eklemlerde de oluşabilir. Travmatik ya da spontan hematomların yanısıra kordun baskılanması, epidural tümor ve infeksiyonlar, myeloskleroz, hemolitik anemi ve talasemi gibi kemik iliğinde büyüme yaparak kemik dokuyu bastıran pek çok nedenlerle oluşabilir. Bu çalışmada lomber ponksiyon sonrası gelişen hematomun yaptığı spinal kompresyon sonucu paraparezi gelişen 6 aylık erkek olgunun yapılan incelemesi ile ilk Hemofili A tanısı konulması üzerine sunuldu. Amacımız bu vaka ile perispinal hematomun parapareziye yol açabileceğini ve hemofili A olgularında görülen nörolojik gerilemenin buna bağlı olabileceğini vurgulamaktır

Özefagusun Parabronşiyal Divertikülü: Vaka Sunumu

WOS: 000376565500040Parabronşiyal ya da midözefagiyal divertiküller, özefagusun orta kesiminin periözefagiyal alana doğru kese şeklinde büyümesi sonucu ortaya çıkar. Bu büyüme genellikle mediastinel inflamasyona sekonder olarak oluşur. Biz, midözefagiyal divertikülü olan yirmibir yaşında erkek hastayı sunuyoruz. Literatür bilgileri eşliğinde bu özefagiyal patolojiyi tartışmayı amaçladık.Parabronchial or midesophageal diverticulum is a saclike bulging of the midesophageal wall into the periesophageal space. This bulging usually occur secondary to mediastinal inflammation. We report a case of a midesophageal diverticulum in a 21-year-old man. We discuss midesophageal diverticulum and review the literature findings

Ailevi akdeniz ateşli çocuklarda ortalama trombosit hacmi ve trombosit dağılım genişliğinin değerlendirilmesi

Platelet activation plays a key part in the process of atherosclerosis. The risk of atherosclerosis increased in familial Mediterranean fever (FMF). Mean platelet volume (MPV), platelet distribution width (PDW) and platelet counts are important in platelet activation. The aim of present study was to evaluate the relationship between the MPV, PDW, PLT counts and mutation types of FMF in children in attack free period. PLT counts, MPV, PDW, age, sex and mutation types of patients were recorded retrospectively from medical records of patients. Three hundred sixty-eight children with FMF in attack-free period and 379 healthy children were included in the study. MPV of the patients were lower than those of control (p0.05). Of 368 patients; homozygous, heterozygous, and compound mutations were seen, respectively, in 51, 267, and 51 patients. The MPV of patients with homozygous (p=0.029) and heterozygous(p=0.041) mutations were found higher than that of patients with compound mutations. There was no difference between heterozygous and homozygous mutation in terms of MPV (p>0.05). In addition, there was no difference between heterozygous, homozygous and compound mutations in terms of PDW and PLT counts (p>0.05). The most common mutations were M694V (n=131), E148Q (n=82), M680I, (n=37), and V726A (n=32). There wasn’t seen significant difference among these mutations in terms of MPV, PDW and PLT counts (p > 0.05). Although, atherosclerosis risk is increased in high MPV levels, we couldn’t find this relationship in current study. It may be due to all the patients were under colchicine treatment. On the other hand PDW levels were found higher in patients than control group. To verify this relationship between PDW and MPV values, further investigations are needed.Trombosit aktivasyonu ateroskleroz sürecinde anahtar rol oynamaktadır. Ateroskleroz riski ailevi Akdeniz ateşi (AAA) hastalığında artmıştır. Ortalama trombosit hacmi, trombosit dağılım genişliği ve trombosit sayısı, trombosit aktivasyonunda önemlidir. Çalışmanın amacı ortalama trombosit hacmi, trombosit dağılım genişliği ve trombosit sayılarıyla ataksız dönemdeki AAA’lı çocukların mutasyon tipinin arasındaki ilişkiyi incelemektir. Ortalama trombosit hacmi, trombosit dağılım genişliği ve trombosit sayıları, yaş, cinsiyet ve mutasyon tipleri, hastaların tıbbi kayıtları geriye dönük incelenerek kaydedilmiştir. Çalışmaya atak döneminde olmayan 368 AAA’lı çocuk hasta ve 379 sağlıklı çocuk dahil edilmiştir. BULGULAR: Ortalama trombosit hacmi (MPV), hastalarda kontrol grubuna göre daha düşüktür (p0.05). Homozigot, heterozigot, birleşik mutasyonlar 368 hastanın sırasıyla 51, 267 ve 51’inde saptanmıştır. OTH; homozigot mutasyonlu (p=0.029) ve heterozigot mutasyonlu hastalarda (p=0.041) birleşik mutasyonlu hastalardan daha yüksek bulunmuştur. Homozigot mutasyonlu hastalarla, heterozigot mutasyonlu hastalarda ortalama trombosit hacmi açısından fark bulunmamıştır (p>0.05). Ayrıca, trombosit dağılım genişliği ve trombosit sayılar açısından heterozigot, homozigot ve birleşik mutasyonlar arasında fark saptanmamıştır (p>0.05). En sık görülen mutasyonlar M694V (131), E148Q (82), M680I, (37), and V726A (32) olarak saptanmıştır. Bu mutasyonlar arasında MPV, trombosit dağılım genişliği ve trombosit sayıları açısından anlamlı fark saptanmamıştır (p > 0.05). Ateroskleroz riski yüksek MPV değerlerinde artmış olsa da, şimdiki çalışmada bu ilişkiyi bulamadık. Bu, belki de tüm hastaların kolşisin tedavisi altında olduğundan kaynaklanmış olabilir. Diğer yandan PDW değerleri kontrol grubuna göre daha yüksek saptanmıştır. PDW ve MPV arasındaki ilişkiyi açıklığa kavuşturmak için daha fazla çalışmaya ihtiyaç vardır

ALSTRÖM SYNDROME ASSOCIATED WITH CEREBRAL INVOLVEMENT: AN UNUSUAL PRESENTATION

Alström syndrome (AS) is a rare autosomal recessive disorder, characterized by retinal degeneration, progressive hearing impairment, truncal obesity and non-insulin dependent diabetes mellitus. A 6-year-old girl was admitted with aphasia, deafness, strabismus, abdominal distention, and weakness on the right body side. The physical and laboratory examination revealed psychomotor retardation, right hemiparesis, sensorioneural hearing loss, aphasia, eye and teeth abnormalities, hyperpigmentation, truncal obesity, hepatosplenomegaly, severe iron deficiency anemia, delayed bone age, and cerebral hemiatrophy. Based on these abnormal findings she was diagnosed as AS. According to our knowledge this is the first case of AS with cerebral involvement. This last finding may be a component of the syndrome