A Case of Secondary Pseudohypoaldosteronism in a Neonate not Due to Urinary Tract Issues [0.03%]
一例非泌尿系统异常导致的新生儿继发性假性低醛固酮症病例报告
Ecem İpek Altınok,Yavuz Özer
Ecem İpek Altınok
In this report, we present a case of a female infant diagnosed with secondary PHA who exhibited weight loss, hyponatremia, hyperkalemia, and metabolic acidosis without the presence of UTA or UTI. The patient was a female infant born at 35 w...
Young Turkish Adults Show a Continuing Positive Secular Change of Height But an Alarming Increase of Overweight in Males: Pilot Study for the Initiation of Updated Growth Charts [0.03%]
土耳其青年成人身高持续增长但男性超重率升高：更新生长发育标准的试点研究
O Bayrak Demirel,C Koc,N M Sukur et al.
O Bayrak Demirel et al.
Objective: Turkish growth reference charts are based on 1989-2002 data. Globally, positive secular trends in height have been observed, and updating growth charts every 20 years is recommended. Additionally, obesity is a ...
Duplication in the SHOX Gene as a Rare Genetic Cause of Short Stature and/or Skeletal Abnormalities: A Clinical Report and Review of the Literature [0.03%]
SHOX基因重复作为矮小症和/或骨骼异常罕见遗传病因的临床报道及文献综述
Benay Turan,Gülçin Arslan,Tayfun Çinleti et al.
Benay Turan et al.
The SHOX (short stature homeobox containing gene) haploinsufficiency can result in phenotypes ranging from idiopathic short stature to Leri-Weill dyschondrosteosis (LWD). It has been reported to have been detected in 5-17% of children diagn...
Comparison of Methods Used for Final Height Prediction in Central Precocious Puberty Patients [0.03%]
中枢性早熟患儿终身高预测方法比较研究
Nisa Nur Turan,Aşan Önder Çamaş,Burçin Çiçek et al.
Nisa Nur Turan et al.
Introduction: Various methods are used to estimate target height in patients diagnosed with precocious puberty. These methods include the Bayley-Pinneau (BP) and Roche-Wainer-Thissen (RWT) methods. In addition to these me...
A Case of Adolescent Girl with Hypercalcemia Resistant to Medical Treatment Due to Giant Breast Fibroadenoma [0.03%]
一例巨大乳腺纤维腺瘤所致难治性高钙血症青春期女孩病例报告
Kürşat Çetin,Berna Singin,Yasemin Funda Bahar et al.
Kürşat Çetin et al.
Hypercalcemia in children is a rare condition and can result from various etiologies such as genetic, metabolic, iatrogenic and malignancy. In some malignancies, Parathyroid Hormone Related Protein (PTHrP) can mimic the physiological effect...
Novel SOX9 Gene Variant Associated with Campomelic Dysplasia: Effects on Sex Phenotypes [0.03%]
新型SOX9基因突变与露肘畸形伴发性别表型异常相关性研究
Nanis S Marzuki,Hannie Dh Kartapradja,Firman P Idris
Nanis S Marzuki
Campomelic dysplasia (CD) is a rare autosomal dominant genetic disorder primarily caused by mutations in the SOX9 gene. While this condition can affect multiple organ systems, it mainly influences skeletal and sexual development, leading to...
Founder Pathogenic Variant in LMNA and Its Diverse Phenotypic Manifestations in Mandibuloacral Dysplasia: Insights from a Turkish Cohort [0.03%]
LMNA致病基因变异在颜面颌骨发育不全-肢带发育不良中的多样性表现：来自土耳其患者的启示
Zehra Manav Yigit,Mustafa Altan,Goksel Tuzcu et al.
Zehra Manav Yigit et al.
Objective: Mandibuloacral dysplasia (MAD) is a rare genetic disorder characterized by distinctive skeletal abnormalities, metabolic issues, and skin changes, often linked to pathogenic variants in the LMNA gene, which enc...
Nailfold Capillaroscopy: A Non-invasive Tool for Early Detection of Microvascular Alterations in Children with Type 1 Diabetes Mellitus [0.03%]
甲襞微循环镜检在1型糖尿病患儿早期检测微血管病变中的应用价值研究
Gözde Akın Kağızmanlı,Tuncay Aydın,Kübra Yüksek Acinikli et al.
Gözde Akın Kağızmanlı et al.
Background: Nailfold capillaroscopy (NC) is a non-invasive tool that can detect microvascular changes in the early stages of vascular disease. Objective: ...
A Rare Presentation of HIST1H1E Syndrome with Short Stature and Multiple Pituitary Hormone Deficiencies [0.03%]
短身材和多种垂体激素缺乏的HIST1H1E综合征罕见表现案例报告
İlayda Altun,Elvan Bayramoğlu,Hasan Karakaş et al.
İlayda Altun et al.
HIST1H1E Syndrome is a rare autosomal dominant disorder resulting from a heterozygous variation in the H1-4 gene located on chromosome 6p22.2. Mental retardation, recognizable facial features, skeletal abnormalities and overgrowth are the m...
Pathogenesis of Thyroid Cancer with Particular Emphasis on the Role of Anoikis [0.03%]
甲状腺癌的发生发展与anoikis的关系不容忽视
Gözde Akın Kağızmanlı,Selen Kum Özşengezer,Korcan Demir et al.
Gözde Akın Kağızmanlı et al.
Thyroid cancer (TC) is the most prevalent malignancy of the endocrine system, with its incidence has been increasing worldwide in recent years. Although it generally has a favorable prognosis, aggressive forms such as anaplastic TC are asso...