Sjögren sendromlu annenin neonatal lupus sendromlu bebeği (original) (raw)
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Ramsay Hunt Sendromlu Bir Çocuk Olgu
2013
Ramsay-Hunt Syndrome (RHS) is a rare disease characterized by peripheral facial paralysis, cochleovestibular symptoms, skin lesions in the auricular canal and/or in the auricula and rarely skin lesions in the hard palate. The disease is also known as Herpes zoster oticus or herpes zoster cephalicus. Early diagnosis and antiviral treatment of peripheral nerve paralysis associated with higher rates of improvement. RHS, which is a rare disease in children should be considered in the differential diagnosis in children presenting with peripheral nerve palsy, erythema, vesicular lesions and/or ear pain. Here we presented a child case in which the first symptom was ear pain and facial palsy, followed by vesicular lesions in the ear pinna, and in the external auditory meatus. The patient recovered without squela of oral steroids and antiviral therapy.
Spondilotorasik Tip Jarcho-Levin Sendromu: Yenidoğan Olgu Sunumu
Jarcho-Levin Sendromu kısa torax, kosta ve vertebraların yapısal ve sayısal anomalileri ile karakte-rize nadir bir sendromdur. Spondilotorasik ve spondilokostal dizostoz olarak adlandırılan iki gruba ayrılan bu sendroma diğer sistemlere ait anomalilerde eşlik edebilmektedir. Bu yazıda Jarcho-Levin Sendromu tanısı alan bir yenidoğan olgusu ciddi nörolojik tutulumu ve eşlik eden anomalileri nede-niyle sunulmuştur. ABSTRACT: Spondylothoracic type Jarcho-Levin Sydnrome: a neonatal case presentation Jarcho-Levin Syndrome is a rare syndrome, characterized by short thorax, numerical and structural abnormalities of costae and vertebrae. This syndrome, divided into spondylothoracic and spondy-locostal subgroups, can be accompanied by other system abnormalities. Herein, we present a newborn diagnosed with Jarcho-Levin syndrome with serious neurological symptoms and accompanied abnormalities.
Sekonder Sjögren Sendromlu Olguda Akciğer Tutulumu
Turkiye Klinikleri Akciger Arsivi, 2001
Sistemik lupus eritamatus(SLE)'a sekonder Sjögren sendromu tan›s› ile 12 y›ld›r takip edilen hastan›n akci¤er grafisinde retiküler infiltrasyon gözlenmesi nedeniyle servisimize sevk edildi. Yüksek rezolüsyonlu toraks bilgisa-yarl› tomografisinde (YRBT) retiküler infiltrasyonlar gözlendi. Transbronfliyal biyopside akci¤er parankiminde lenfosit infiltrasyonu izlendi. Bronkoalveoler lavajda (BAL) lenfosit oran›nda artma saptand›. Olgu sekonder SS'nun akci¤er tutulumu olarak kabul edilerek kortikosteroid tedavisine bafllanarak tedavi sonuçlar› için takibe al›nd›.
2013
The importance of systemic evaluation of dry eye patients and choosing appropriate treatment based on the severity of disease were emphasized with this case. 48 years old woman complained about decreased vision, burning, itching in both eyes which got worse over the years, for about 20 years. Schirmer I test value was 0 mm/5min in both eyes. Slit lamp examination revealed filamentary keratitis in both eyes. Anti-Ro/ SSA, anti-La/ SS-B antibodies and salivary gland biopsy for Sjögren syndrome were positive. Temporary punctal occlusion and oral hydroxychloroquine were added to her treatment. After 10 days, her overall dry eye condition improved and permanent punctual plugs were inserted in both lower puctums. Dry eye patients should be evaluated systemically and severity of disease should be considered before treatment is started. Addition to topical application of artificial tears, punctal occlusion may be a proper option in dry eye patients with Sjogren syndrome. ÖZET Bu vaka ile ku...
Adli tıp bülteni, 2006
Bir yafl›n alt›ndaki bebeklerin ani ve beklenmedik ölümlerinde; t›bbi ve sosyal öykü, olay yeri incelemesi, yap›lan otopsi ve tetkiklere karfl›n ölüm sebebi aç›klanamayan ölümler ani bebek ölümü sendromu (ABÖS) olarak tan›mlanmaktad›r. Geliflmifl ülkelerde yenido¤an döneminden sonra çocukluk ça¤›nda mortalitenin önemli nedenlerinden biridir. Bebekler genellikle uyku esnas›nda ölü bulunur ve ölüme neden olacak herhangi bir bulgu yoktur. Bugüne kadar birçok çal›flma yap›lmas›na karfl›n sorumlu mekanizmalar ve fizyopatoloji henüz ayd›nlat›-lamam›fl, ancak riski art›ran birçok etken tan›mlanm›flt›r. Ça-l›flmada; ABÖS güncel literatür ›fl›¤›nda de¤erlendirilmifl, risk etkenleri gözden geçirilmifl, s›kl›¤›n›n azalt›lmas›na yönelik önlemler belirtilmifl, otopsinin yan› s›ra öykünün önemi de vur-gulanm›flt›r.
Ebeveynlerin bakış açısıyla Williams sendromlu çocuklar
Turkish Special Education Journal: International TSPED, 2024
Williams Syndrome (WS) is among the neurodevelopmental disorders that occur in 1 in 7.500 to 20.000 live births. Parents are unable to discover it right away after birth because it is uncommon. However, later on, they consult a doctor with certain health problems. As a result of health screenings, they are diagnosed with WS. The basic purpose of this study is to examine the characteristics of children with Williams Syndrome from their parents' perspective. Qualitative research method was adopted in this research and was conducted with a descriptive case design. For this study, a semi-structured interview form was created and interviews were conducted with 10 parents of children with WS. Interviews were transcribed, themes and subthemes were created, and content analysis was conducted. As a result of the content analysis, six themes were created: health problems, hobbies-phobias, cultural activities, learning quality, nutrition and physical features. Among health problems, heart disease was the most common. It has been determined that they enjoy music as a hobby but are afraid of loud noises as a phobia. In cultural activities, it was mentioned that they participated in musical events (such as mini concerts). Frequent reminders have been shown to be necessary for learning. It has been seen that they love dough products in nutrition. Among the most frequently observed physical features, most of them are thin. It follows that both teachers and families should have a great deal of hope while engaging in educational activities with children who have WS because these children are developable, teachable, and trainable. In addition, this study provided parents, teachers and friends of children with WS with the opportunity to get to know children with WS more closely. In the last section of the study, suggestions for future studies are presented to new researchers based on the study findings.
2016
The thrombocytopenia-absent radii (TAR) syndrome is characterized by bilateral absence of the radii in the presence of both thumbs and thrombocytopenia. Lower limb involvement and cardiac, gastrointestinal, renal, and genital abnormalities may also be seen in the patients with TAR syndrome. Thrombocytopenia may be congenital or may develop within the first few weeks to months of life; in general, thrombocytopenic episodes decrease with age. Cow’s milk intolerance is common and can be associated with exacerbation of thrombocytopenia. Anemia has been described in a large number of patients. It is not clear whether this is entirely related to blood loss from bleeding secondary to thrombocytopenia or whether there may be a shortened RBC lifespan. There appears to be a hemolytic component to the anemia, particularly during the first year of life. TAR syndrome should be kept in mind in a neonate with thrombocytopenia that is associated with hemolytic anemia and cow’s milk intolerance shou...
Ailelerin Sarsılmış Bebek Sendromu Hakkında Bilgi Düzeyi
Anadolu Kliniği Tıp Bilimleri Dergisi, 2018
Amaç: Sarsılmış Bebek Sendromu psikomotor gelişimin gecikmesi, öğrenme, konuşma zorlukları, fiziksel, zihinsel bozukluklar gibi beyin hasarlarına yol açabilir, Çalışmamızın amacı ailelerin sarsılmış bebek sendromunu hakkında bilgilerini ölçmektir. Gereç ve Yöntemler: Çalışma Ocak-Mart 2016 tarihleri arasında 170 kadın 16 erkek ebeveyni içermektedir. Ebeveynlerin bebeklerini avutma yöntemleri ve sarsılmış bebek sendromun hakkındaki bilgi düzeyi 32 soruluk olan anket ile değerlendirildi. Kullanılan anketin nominal soruları dışındaki, sorular için güvenilirlik analizi Cronbach's Alpha katsayısı % 85 olarak bulundu.Bulgular: Çalışma %8,6'sı (n=16) baba, %91,4'ü anne (n=170) toplam 186 olgu ile gerçekleştirildi. Ebeveynlerin sarsılmış bebek sendromu hakkında bilgi sahibi olma oranı %16 olarak belirlendi. “Bebekleri sarsmanın zararı var mı?” sorusuna %87,6 evet yanıt verdi, “Annenin eğitim durumunun bebeği sarsmanın bebeğe zararı var mıdır?” sorusuna istatistik olarak anlamlı ...