Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization

Carpenter syndrome is an autosomal-recessive multiple-congenital-malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet; many other clinical features occur, and the most frequent include obesity, umbilical hernia, cryptorchidism, and congenital heart disease. Mutations of RAB23, encoding a small GTPase that regulates vesicular transport, are present in the majority of cases. Here, we describe a disorder caused by mutations in multiple epidermal-growth-factor-like-domains 8 (MEGF8), which exhibits substantial clinical overlap with Carpenter syndrome but is frequently associated with abnormal left-right patterning. We describe five affected individuals with similar dysmorphic facies, and three of them had either complete situs inversus, dextrocardia, or transposition of the great arteries; similar cardiac abnormalities were previously identified in a mouse mutant for the orthologous Megf8. The mutant alleles comprise one nonsense, three missense, and two splice-site mutations; we demonstrate in zebrafish that, in contrast to the wild-type protein, the proteins containing all three missense alterations provide only weak rescue of an early gastrulation phenotype induced by Megf8 knockdown. We conclude that mutations in MEGF8 cause a Carpenter syndrome subtype frequently associated with defective left-right patterning, probably through perturbation of signaling by hedgehog and nodal family members. We did not observe any subject with biallelic loss-of function mutations, suggesting that some residual MEGF8 function might be necessary for survival and might influence the phenotypes observed

Breastfeeding and depression: a systematic review of the literature

Background: Research has separately indicated associations between pregnancy depression and breastfeeding, breastfeeding and postpartum depression, and pregnancy and postpartum depression. This paper aimed to provide a systematic literature review on breastfeeding and depression, considering both pregnancy and postpartum depression. Methods: An electronic search in three databases was performed using the keywords: “breast feeding”, “bottle feeding”, “depression”, “pregnancy”, and “postpartum”. Two investigators independently evaluated the titles and abstracts in a first stage and the full-text in a second stage review. Papers not addressing the association among breastfeeding and pregnancy or postpartum depression, non-original research and research focused on the effect of antidepressants were excluded. 48 studies were selected and included. Data were independently extracted. Results: Pregnancy depression predicts a shorter breastfeeding duration, but not breastfeeding intention or initiation. Breastfeeding duration is associated with postpartum depression in almost all studies. Postpartum depression predicts and is predicted by breastfeeding cessation in several studies. Pregnancy and postpartum depression are associated with shorter breastfeeding duration. Breastfeeding may mediate the association between pregnancy and postpartum depression. Pregnancy depression predicts shorter breastfeeding duration and that may increase depressive symptoms during postpartum. Limitations: The selected keywords may have led to the exclusion of relevant references. Conclusions: Although strong empirical evidence regarding the associations among breastfeeding and pregnancy or postpartum depression was separately provided, further research, such as prospective studies, is needed to clarify the association among these three variables. Help for depressed pregnant women should be delivered to enhance both breastfeeding and postpartum psychological adjustment.This research was supported by FEDER Funds through the Programa Operacional Factores de Competitividade – COMPETE and by National Funds through FCT – Fundaçãopara a Ciência e a Tecnologiaunder the project: PTDC/SAU/SAP/116738/2010. The sponsors had no further role in the study design; in the collection, analysis and interpretation of data; in the writing of the report; and in the decision to submit the paper for publication

Astımlı hastalarda mycoplasma pneumoniae, chlamydia pneumoniae, helicobacter pylori sıklığı ve hastalıkla ilişkisi

TEZ7695Tez (Uzmanlık) -- Çukurova Üniversitesi, Adana, 2005.Kaynakça (s.70-79) var.viii, 80 s. ; 29 cm.Asthma is a hyper reactive inflammatory chronic airway disease characterized with obstruction of small airways. There are many factors that affect the development and severity of asthma; such as genetical predisposition, atopy, environmental factors, gene-environmental interactions, stress, obesity, diet, socio-economic conditions and infectious causes. In this study we investigated frequency of M.pneumoniae, C.pneumoniae, H.pylori in asthma patients and whether these microorganisms have any causal relationship with asthma...Astım, hava yolu aşırı duyarlılığı ve yaygın hava yolu daralması ile karakterize kronik inflamatuar bir hava yolu hastalığıdır. Astım gelişmesini ve şiddetini birkaç faktör etkilemektedir. Genetik predispozisyon, atopi, çevresel faktörler, gen-çevre etkileşimi, stres, obesite, diyet, sosyoekonomik durum ve infeksiyonlar astım gelişimindeki etyolojik faktörlerdir. Bu çalışmada, akut ve kronik astımlı hastalarda M.pneumoniae, C.pneumoniae ve H.pylori'nin sıklığını belirlemek, hastalıkla ilişkisini araştırmak istedik...Bu çalışma Ç.Ü. Bilimsel Araştırma Projeleri Birimi Tarafından Desteklenmiştir. Proje No:TF2003LTP2

Doğum şeklinin doğum sonrası depresyon, algılanan sosyal destek ve maternal bağlanma ile ilişkisi

Amaç: Yazında doğum şeklinin, doğum sonrası depresyon ve anne-bebek etkileşimi üzerine etkilerini inceleyen çalışmalarda farklı sonuçlar bulunmaktadır. Bu çalışmanın amacı doğum şekli ile doğum sonrası depresyon, algılanan sosyal destek ve maternal bağlanma arasındaki ilişkiyi incelemektir. Yöntem: Vajinal doğum yapan 40 kadın ve sezaryen doğum yapan 40 kadın çalışmaya alınmıştır. Depresif belirtilerinin taranmasında Edinburg Doğum Sonrası Depresyon Ölçeği (EDSDÖ), maternal bağlanmanın incelenmesinde Maternal Bağlanma Ölçeği (MBÖ) kullanılmıştır. Sosyal destek Çok Boyutlu Algılanan Sosyal Destek Ölçeği (ÇBASDÖ) ile değerlendirilmiştir. Bulgular: Doğum sonrası depresyon ve algılanan sosyal destek puanları açısından iki grup arasında fark bulunmamıştır. Diğer yandan MBÖ puanları SD yapan kadınlarda anlamlı olarak daha düşük bulunmuştur. Sonuç: Çalışmamızın sonuçları doğum şeklinin doğum sonrası depresyon gelişimi üzerine bir etkisinin olmadığını desteklemektedir. Bunun yanında SD'nin maternal bağlanma üzerine olumsuz bir etkisi olabilirObjective: There are contradictory findings in the literature about the effects of delivery type on postpartum depression and mother–infant interaction. The aim of this study was to investigate the relationship between delivery mode and postpartum depression, perceived social support, and maternal attachment.Method: Forty females, who had vaginal delivery (VD) and 40 females, who had cesarean delivery (CD) were recruited to participate in the study. Edinburgh Postpartum Depression Scale (EPDS) was used to screen depressive symptoms and Maternal Attachment Scale (MAS) was used to detect maternal attachment. Social support was assessed by using Multidimensional Scale of Perceived Social Support (MSPSS).Results: We found no significant differences in postpartum depression and perceived social support scores between the two groups. On the other hand, MAS scores were significantly lower in CD women.Discussion: Our findings support that delivery mode had no impact on the development of postpartum depression. However CD may have negative effect on maternal attachmen

Milroy disease: Case report

Milroy hastalığı; lenfatik damarların konjenital gelişimsel anomalisine bağlı olarak ortaya çıkan ve her iki ayak sırtından başlayıp alt ekstremiteye doğru ilerleyen ödem ile karakterizedir. Yedi aylık kız hasta doğumundan itibaren her iki ayak ve bacak bölgesinde şişlik yakınması ile poli-kliniğimize getirildi. Fizik muayenesinde her iki ayak sırtı ve bacaklarda gode bırakan ödem mevcuttu. Alt ekstremite lenfosintigrafisinde enjeksiyon bölgesi proksimalinde lenfatik klerens izlenmeyen vakaya Milroy hastalığı tanısı konuldu. Doğumda alt ekstremitelerde ödemi olan vakalarda ayırıcı tanıda Milroy hastalığının düşünülmesi gerektiği vurgulandı.Milroy disease is characterized by edema that starts from the dorsum of foot and progresses to lower extremities due to a congenital anomaly of lenfatic vessels. A 7-month-old girl was brought to our outpatient clinic with complaints of bilateral swelling of the legs and feet. At physical examination edema was present on the dorsum of feet and legs. In lymphoscintigraphy lymphatic clearance was not detected in the proximal injection region and the case was diagnosed as Milroy disease. Milroy disease should be thought in the differential diagnosis of cases with edema in the lower extremities at birth

Congenital nephrotic syndrome: Case report and review of literature

Konjenital nefrotik sendrom (KNS), doğumdan sonra kendini belli eden ciddi proteinüri, hipoalbüminemi ve ödemle karakterize nadir bir böbrek hastalığıdır. Özellikle nefrin ve podocin adlı genlerde oluşan mutasyon sonucu glomerular filtrasyon bariyerinin bozulmasıyla ortaya çıkan genetik bir bozukluktur. KNS perinatal enfeksiyonların sonucunda olabileceği gibi, genetik bir sendromunda parçası da olabilir. İmmün süpresif tedavi genetik kaynaklı KNS'de etkisizdir ancak böbrek transplantasyonu küratif tedavi sağlamaktadır. Birçok vakada hayatı tehdit eden ödemden korumak için günlük albümin infüzyonu gerekmektedir. Ek olarak yüksek kalorili diyet, tiroksin ve mineral desteği uygulanır. Tromboembolik komplikasyonların ve immünite yetersizliğinden dolayı gelişebilecek firsatçı infeksiyonların proflaksisi gerekmektedir. Yazımızda ödemi olmayan ancak sebat eden hipoalbüminemi ve proteinüri nedeniyle KNS tanısı alan bir yenidoğan olgusunu sunarak hastalığı literatür eşliğinde tartıştıkCongenital nephrotic syndrome (CNS) is a rare kidney disease which reveals itself after birth and characterized with severe proteinuria, hypoalbuminemia and edema. It is a genetic disorder that occurs with deterioration of glomerular filtration barrier especially as a result of mutation that develops in genes called nephrin and podocin. CNS could be as a result of perinatal infection as well as a part of a genetic syndrome. Immune suppressive treatment is ineffective in genetically originated CNS, however renal transplantation yields curative treatment. In many cases to prevent from life threatening edema, daily albumin infusion is needed. Additionally, high caloric diet, thyroxin and mineral supply are applied. Also prophylaxis of thrombolytic complications and opportunistic infection that could develop due to immune deficiency is needed. In this report we discussed a case with the review of literature by reporting a newborn which had CNS diagnosis as a result of persistent hypoalbuminemia and proteinuria without edema

Candida albicans menengitis in a newborn with classical galactosemia

Classical galactosemia is a rarely seen carbohydrate metabolismdisorder. The frequency of sepsis significantlyincreases in patients with galactosemia. The most commonagent causing sepsis is E. coli. Sepsis due to fungusin patients with galactosemia is rarely reported. Candidais an important cause of sepsis in newborn intensive careunits especially in newborns with underlying risk factorssuch as prematurity and low birth weight. Although themost common etiologic agent of sepsis is E. coli in caseswith galactosemia, it should be kept in mind that candidamay also be causative agent of sepsis and meningitis inthese patients even though there is no underlying risk factor.Also the clinical and laboratory findings of candidiasismay be obscure. For this reason, especially in newborncandida meningitis, the index of suspicion should be kepthigh for early diagnosis and treatment. In such patientscerebrospinal fluid analysis, culture and brain imagingshould be done necessarily, because early diagnosis andtreatment will be life saving. In this article we reported agalactosemia case with the diagnosis of meningitis andCandida albicans grown in his blood culture derived onthe fourth day of admission to clinic.Key words: Candida albicans, galactosemia, meningitis,newborn, sepsi

Çok düşük düoğum ağrıları olan bebeklerin doğum sonrası depresyon

Amaç: Çok düflük doum arlkl (ÇDDA) bir bebein doumu annesi için önemli bir yaflam olaydr. Bu bebeklerin annelerinin psikolojik stres açsndan yüksekrisk altnda olduu çeflitli arafltrmalarda gösterilmifltir. Bu çalflmann amac ÇDDA olan bebeklerin annelerinde depresif belirtilerin düzeyini arafltrmak veiliflkili etmenleri incelemektir. Yöntem: Çalflmaya 35 ÇDDA bebein (1500 gr) annesi, 35 düflük doumarlkl (DDA) bebein (1500-2500 gr) annesi ve 35 zamannda doan salklbebein (2500 gr) annesi olmak üzere toplam 105 bebek ve annesi alnmfltr. Annelerdeki doum sonras depresif belirtilerin incelenmesinde Edinburg Doum Sonras Depresyon Ölçei (EDDÖ) kullanlmfltr. Sosyal destek ise Çok BoyutluAlglanan Sosyal Destek Ölçei (ÇBASDÖ) ile deerlendirilmifltir. Bulgular: Ortalama EDDÖ puan ve yüksek depresyon puan olan (EDDÖ12) annelerin says ÇDDA olan bebeklerin annelerinde DDA olan bebeklerin vezamannda doan bebeklerin annelerine göre daha fazlayd. EDDÖ ile doumhaftas, doum arl ve alglanan sosyal destek arasnda negatif yönde kore-lasyon, EDDÖ ile hastanede kalfl süresi arasnda ise pozitif yönde korelasyonolduu görüldü. Düflük doum arl ve hastanede uzun süre kalfl doum son-ras depresyon için öngörücü deiflken olarak bulundu. Sonuç: Çok düflük doum arl olan bir bebein doumu ve ardndan hastan-eye yatrlmas annede psikolojik stres oluflturmaktadr. Çocuk hekimlerininÇDDA bebeklerin annelerinde depresif belirtiler konusunda daha dikkatliolmalar ve gerektiinde psikiyatri kliniine yönlendirmeleri yararl olabilir. (Nöropsikiyatri Arflivi 2012; 50: 30-33)Background: Giving birth to an infant with very low birth weight (VLBW) is a major life event for a mother. Several studies have shown that mothers of these infants are at greater risk of psychological distress. The aim of this study was to investigate the level of depressive symptoms and to determine the associated factors among mothers who have infants with VLBW. Methods: The sample consisted of 105 subjects: 35 mothers of VLBW infants (>1500 g), 35 mothers of low birth weight (LBW) infants (1500-2500 g), and 35 mothers of healthy term infants (<2500 g). The Edinburgh Postpartum Depression Scale (EPDS) was used to detect maternal depressive symptoms. Maternal social support was assessed by the Multidimensional Scale of Perceived Social Support (MSPSS). Results: The mean EPDS score and the number of mothers with high depressive scores (EPDS<12) were significantly higher in mothers of infants with VLBW than in mothers of LBW and term infants. EPDS score was negatively correlated with birth weight, gestational age, and perceived social support and positively correlated with duration of hospital stay in mothers of infants with VLBW. Low birth weight and long hospital stay were found as predictors of postpartum depression in mothers of infants with VLBW. Conclusion: The birth and subsequent hospitalization of an infant with very low birth weight evoke psychological distress in mothers. Pediatricians should be more careful about depressive symptoms of mothers of infants with VLBW and should refer for counseling when it is necessary. (Archives of Neuropsychiatry 2012; 50: 30-33

Pseudohypoparathyroidism: A case report

Psödohipoparatiroidi parathormona end organ direnci nedeniyle gelişen hipokalsemi, hiperfosfatemi ve parathormon yüksekliği ile karakterize bir durum olup şimdiye kadar üç tipi tanımlanmıştır. Tip-Ia’da hastalarda dismorfik özellikler mevcut iken tip-1b ve tip-II’deki hastalar normal görünüme sahiptir. Kliniğimize jeneralize tonik-klonik konvulsiyon ve hipokalsemi nedeniyle refere edilen 11 yaşındaki kız hastaya psödohipoparatiroidi tip-Ib tanısı konuldu. Hastamızda psödohipoparatiroidiye ek olarak hipotiroidi de saptandı. Psödohipoparatiroidide hipotiroidi daha çok tip- Ia ve tip-1c’de görülmektedir. Tip-I ve tip-II’de beklenen bir bulgu değildir. Olgu, hem hipokalsemik konvulsiyon nedeniyle başvuran ve tedaviye cevap vermeyen hastalarda psödohipoparatiroidizmin tanı seçenekleri arasında düşünülmesi gerektiğini vurgulamak amacıyla hem de beraberinde hipotiroidi de saptandığı için ilginç bulunarak sunuldu.Pseudohypoparathyroidism is characterized by hypocalcemia, hyperphosphatemia and parathormone elevation resulting from end organ resistance against parathormone and three types of it have been defined till now. While type-Ia patients have dysmorphic characteristics, type-Ib and type-II patients have normal appearances. Here we present a 11 year-old girl who was referred to our clinic because of generalized yonic-clonic convulsion and hypocalcemia, and diagnosed as pseudohypoparathyroidism type-Ib. We also detected hypothroism in this patient. Hypothyroidism is frequent in type-Ia and type-Ic pseudohypoparathyroidism, although is very rare in type Ib and type-II pseudohypoparathyroidism. This case was reported in order to remind pseudohypoparathyroidism in patients with hypocalcemic convulsions. Additionally hypothyroidism is the interesting feature of this case

The effects of depression and impulsivity on obesity and binge eating disorder

Objective: The aim of study was to evaluate depression and impulsivity in obese people with binge eating disorder (BED). Method: The study included 149 obese study participants who were compared to 151 non-obese healthy controls. They were assessed with the Structured Clinical Interview (SCID-I), Eating Attitudes Test (EAT), Beck Depression Inventory (BDI), and Barratt Impulsiveness Scale-11 (BIS-11). Results: The prevalence of BED was 47.6% in the obese study participants. Obesity with BED was more common in female participants. Depressive disorder was detected in 41.2% of the obese subjects. There was no significant difference between BED (+) and BED (-) groups with respect to depressive disorder (p>0.05). The cognitive impulsivity and non-planning activity scores of the depressive group were significantly higher than for the participants without depression (0.05). The cognitive impulsivity and non-planning activity scores of the depressive group were significantly higher than for the participants without depression (<0.05). The cognitive impulsivity scores of depressive obese participants were significantly higher than for obese participants without depression (<0.05). Conclusion: Obesity appears to be associated with depression rather than impulsivity. Impulsivity was found in obese people with binge-eating specifically. This study suggests that depression and/or binge eating may be mediating factors for the outcome of obesity